The number of journal papers and other articles in the medical literature that are published about ACDMPV is growing as awareness of the condition grows within the medical community. Below is a list of articles that we know about that have been published on ACDMPV that are listed in publication date order. We attempt to provide the most comprehensive database of information on ACDMPV and therefore, appreciate any information concerning additional articles or other literature that become available.
- Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted
Alsina Casanova M, Monteagudo-Sánchez A, Rodiguez Guerineau L, Court F, Gazquez Serrano I, Martorell L, Rovira Zurriaga C, Moore GE, Ishida M, Castañon M, Moliner Calderon E, Monk D, Moreno Hernando J. (2017): In: Hum Mutat. 2017 Jun;38(6):615-620. doi: 10.1002/humu.23213. Epub 2017 Mar 24.
This paper from a team at Barcelona University, Spain focuses on imprinting in ACDMPV. We define paternal imprinting in the ACDA genetics guide as ‘the inactivation of a copy of a gene inherited from the father of an infant so that the gene is silent and not expressed. This leaves only the gene copy inherited from the infant’s mother active and expressed.’
We know that around 90% of mutations and 95% of deletions of FOXF1 are on the chromosome the infant inherited from his/her mother. It has thus been presumed that FOXF1 is subject to paternal imprinting (of course the majority of FOXF1 abnormalities arise de novo in the process of egg formation and are thus not actually inherited from the mother). However, there have been some findings that have been inconsistent with imprinting. Two prior cases of ACDMPV (both a familial case and a de novo case) have been described which were caused by FOXF1 mutations inherited from the infants’ fathers. Additionally 4 children have been identified who do not have ACDMPV but in whom both copies of chromosome 16 (in which FOXF1 is found) have been inherited from their fathers. If FOXF1 is subject to paternal imprinting this should have resulted in ACDMPV but this was not the case.
The authors of this paper thus investigate imprinting by studying 3 infants with ACDMPV, two identical twins and a separate infant. They found all 3 infants to have FOXF1 mutations that were derived from their mothers. However they then analysed the expression of FOXF1 in a variety of adult and foetal tissues and found that the genes derived from both mother and father were expressed in these tissues. They went on to study FOXF1 methylation. This is the process in which methyl groups are added to genes in order to switch them off. It is a key feature of imprinting. They found no methylation of FOXF1.
The authors conclude that the clinical and genetic data to date do not support the long-held view that FOXF1 is subject to paternal imprinting. They suggest an alternative, currently unknown mechanism is responsible for the maternal inheritance pattern of FOXF1 gene abnormalities. Thanks to Dr. Simon Ashwell, father to David, for this summary.
- Alveolar capillary dysplasia with misalignment of the pulmonary veins due to novel insertion mutation of FOXF1
Nagano N, Yoshikawa K, Hosono S, Takahashi S, Nakayama T. (2016): In: Pediatr Int. 2016 Dec;58(12):1371-1372. doi: 10.1111/ped.13107.
- Clinical utility of array comparative genomic hybridisation in prenatal setting
Lovrecic L, Remec ZI, Volk M, Rudolf G, Writzl K, Peterlin B. (2016): In: BMC Med Genet. 2016 Nov 15;17(1):81.
- Risk and relevance of open lung biopsy in pediatric ECMO patients: the Dutch experience
Houmes RJ, Ten Kate CA, Wildschut ED, Verdijk RM, Wijnen RM, de Blaauw I, Tibboel D, van Heijst AF. (2016): In: J Pediatr Surg. 2016 Nov 14. pii: S0022-3468(16)30564-4. doi: 10.1016/j.jpedsurg.2016.11.031
- Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPV
Przemyslaw Szafranski, Carmen Herrera, Lori A. Proe, Brittany Coffman, Debra L. Kearney, Edwina Popek and Paweł Stankiewicz (2016): In: Clinical Epigenetics 20168:112 DOI: 10.1186/s13148-016-0278-2. Published: 3 November 2016
http://clinicalepigeneticsjournal.biomedcentral.com/articles/10.1186/s13148-016-0278-2 *FREE – Full Article*
- Lethal lung hypoplasia and vascular defects in mice with conditional Foxf1 overexpression
Dharmadhikari AV, Sun JJ, Gogolewski K, Carofino BL, Ustiyan V, Hill M, Majewski T, Szafranski P, Justice MJ, Ray RS, Dickinson ME, Kalinichenko VV, Gambin A, Stankiewicz P. (2016): In: Biol Open. 2016 Sep 16. pii: bio.019208. doi: 10.1242/bio.019208. [Epub ahead of print].
https://www.ncbi.nlm.nih.gov/pubmed/27638768 *FREE – Full Article*
The genetic research team at Baylor College of Medicine in Houston, Texas, USA has worked in direct collaboration with a developmental biology research group at Cincinnati Children’s Hospital Medical Center in Cincinnati, Ohio, USA, including recently publishing together a mouse model of FOXF1 overexpression. The full manuscript entitled “Lethal lung hypoplasia and vascular defects in mice with conditional Foxf1 overexpression” as published in Biology Open can be found HERE. The paper was based off the PhD thesis of Avinash Dharmadhikari, a graduate student and mentee of Dr. Pawel Stankiewicz at Baylor and used mouse models to research what happens in mice when the FOXF1 gene is overexpressed. The research was a significant amount of work involving substantial experimentation with mice and follows up on prior work discussed in a 2014 paper. The 2014 study investigated the outcomes of FOXF1 duplication where four unrelated living people with duplication of FOXF1 were identified. Unexpectedly, none of the four patients had any lung abnormalities. However, Baylor was unable to measure the expression levels of FOXF1 in the 2014 study because the patients were otherwise healthy with regards to respiratory issues so no lung biopsies could be performed. As such, in the 2016 paper, Baylor implemented a mouse model study to increase the availability of samples in which to study FOXF1 expression levels. They developed a conditional model to switch on FOXF1 when they want in mice to change the expression levels and observed lung abnormalities when FOXF1 was overexpressed. Similar to FOXF1 loss, FOXF1 overexpression in mice is lethal. Based on the results of the 2016 mouse models, the research concluded that to be on the safe side, any future gene therapy would need to be careful with manipulating the expression of FOXF1 gene in humans because it could be problematic in humans if FOXF1 is overexpressed too much. This has important clinical implications when considering potential gene therapy approaches to treat disorders of FOXF1 abnormal dosage, such as ACDMPV.
ACDMPV was also mentioned in an article about research being conducted by the Cincinnati group referenced above (click HERE). The research is currently only applicable in mouse models and considerable further research is needed as to how the compound would apply to human lung diseases. From the article, “Researchers are developing a new drug to treat life-threatening lung damage and breathing problems in people with severe infections like pneumonia, those undergoing certain cancer treatments and premature infants with underdeveloped, injury prone lungs…Two laboratories at Cincinnati Children’s are developing a pharmacologic compound that in mouse models stimulates FOXF1 and promotes repair after lung injury.” The ACDA is hopeful for additional research that provides a full understanding of the molecular mechanism as to how the compound works and then further research into whether this could ever be applied to human patients at some point in the future.
The ACDA is grateful for the continued collaborative efforts between the research teams at Baylor and Cincinnati Children’s. This summary prepared by Eliza Rista.
- FOXF1 gene mutation in alveolar capillary dysplasia associated with Hirschsprung’s disease and clinical review.
Goel D, Oei JL, Shand AW, Mowat D, Loo C. (2016): In: J Paediatr Child Health. 2016 Jul;52(7):787-8. doi: 10.1111/jpc.13191.
- Diffuse lung disease: cause of persistent pulmonary hypertension before one year of age
[Article in Spanish] Dicembrino M, Haag D, Álvarez M, Díaz Cazaux A, Castaños C. (2016): In: Arch Argent Pediatr. 2016 Jun 1;114(3):e175-e178. doi: 10.5546/aap.2016.e108. Epub 2016 Jun 1.
- Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
Szafranski P, Gambin T, Dharmadhikari AV, Akdemir KC, Jhangiani SN, Schuette J, Godiwala N, Yatsenko SA, Sebastian J, Madan-Khetarpal S, Surti U, Abellar RG, Bateman DA, Wilson AL, Markham MH, Slamon J, Santos-Simarro F, Palomares M, Nevado J, Lapunzina P, Chung BH, Wong WL, Chu YW, Mok GT, Kerem E, Reiter J, Ambalavanan N, Anderson SA, Kelly DR, Shieh J, Rosenthal TC, Scheible K, Steiner L, Iqbal MA, McKinnon ML, Hamilton SJ, Schlade-Bartusiak K, English D, Hendson G, Roeder ER, DeNapoli TS, Littlejohn RO, Wolff DJ, Wagner CL, Yeung A, Francis D, Fiorino EK, Edelman M, Fox J, Hayes DA, Janssens S, De Baere E, Menten B, Loccufier A, Vanwalleghem L, Moerman P, Sznajer Y, Lay AS, Kussmann JL, Chawla J, Payton DJ, Phillips GE, Brosens E, Tibboel D, de Klein A, Maystadt I, Fisher R, Sebire N, Male A, Chopra M, Pinner J, Malcolm G, Peters G, Arbuckle S, Lees M, Mead Z, Quarrell O, Sayers R, Owens M, Shaw-Smith C, Lioy J, McKay E, de Leeuw N, Feenstra I, Spruijt L, Elmslie F, Thiruchelvam T, Bacino C, Langston C, Lupski JR, Sen P, Popek E, Stankiewicz P. (2016): In: Hum Genet. May 2016.
This paper updates current knowledge about the genetics of ACDMPV based upon past research and new findings from recent work. Baylor College of Medicine in Houston, Texas, USA has accumulated the largest collection of ACDMPV samples worldwide (N=141 families), in which they have identified 86 pathogenic variants in the FOXF1 locus: 38 deletion CNVs, a complex rearrangement and 47 point mutations. DNA was not of sufficient quality for genetic testing in most of the remaining 55 families. The paper demonstrates the complexity of genomic and epigenetic regulation of the FOXF1 gene in 16q24.1. This summary prepared by Eliza Rista.
- Long-range enhancers modulate Foxf1 transcription in blood vessels of pulmonary vascular network
Seo H, Kim J, Park GH, Kim Y, Cho SW. (2016): In: Histochem Cell Biol. 2016 May 11 [Epub ahead of print]
- Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family
Reiter J, Szafranski P, Breuer O, Perles Z, Dagan T, Stankiewicz P, Kerem E. (2016): In: Pediatr Pulmonol. 2016 May 4. doi: 10.1002/ppul.23425. [Epub ahead of print]
- Maternal somatic mosaicism of FOXF1 mutation causes recurrent alveolar capillary dysplasia with misalignment of pulmonary veins in siblings
Ho Ming Luk, Tao Tang, Kwong Wai Richard Choy, Ming For Tony Tong, On Kit Wong, Fai Man Ivan Lo. (2016): In: American Journal of Medical Genetics Part A. Version of Record online: 25 APR 2016. DOI: 10.1002/ajmg.a.37660
- Unraveling the role of genomic imprinting at 16q24.1 in pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins and maternal uniparental disomy 16
Paweł Stankiewicz, Avinash V Dharmadhikari, Jenny J Sun, Brandi Carofino, Kadir Caner Akdemir, Claire Langston, Edwina Popek, Monica J Justice, Mary E Dickinson, Russell Ray, Partha Sen, Przemyslaw Szafranski
Abstracts of the 13th International Congress of Human Genetics (ICHG2016), Kyoto, Japan, 3-7 April 2016
http://www.ichg2016.org/ *FREE – Abstract*
- Recommendations for utilization of the paracorporeal lung assist device in neonates and young children with pulmonary hypertension
Gazit AZ, Sweet SC, Grady RM, Boston US, Huddleston CB, Hoganson DM, Shepard M, Raithel S, Mehegan M, Doctor A, Spinella PC, Eghtesady P. (2016): In: Pediatr Transplant. 2016 Mar;20(2):256-70. doi: 10.1111/petr.12673. Epub 2016 Feb 21.
- Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
Prothro SL, Plosa E, Markham M, Szafranski P, Stankiewicz P, Killen SA. (2015): In: J Pediatr. 2015 Dec 15. pii: S0022-3476(15)01453-5. doi: 10.1016/j.jpeds.2015.11.041.
- Alveolar Capillary Dysplasia as a Cause of Persistent Pulmonary Hypertension
Razak A, Mohanty PK, Nagesh NK. (2015): In: Indian Pediatr. 2015 Nov 11;52(11):984-6.
http://www.ncbi.nlm.nih.gov/pubmed/26615352 *FREE – Full Article*
- Diffuse pulmonary development disorders- Molecular definable causes of pulmonary hypertension in the mature newborn
Meike Hengst, Nicolaus Schwerk, Jost Wigand Richter, Hans Fuchs, Lars Welzing, Mathias Klemme, Matthias Griese. (2015): In: European Respiratory Journal, 1 September 2015
- Lung Vasculogenesis and Angiogenesis
Bernard Thébaud, Mervin C. Yoder. (2015): In: Stem Cells in the Lung.
- Current State of Pediatric Lung Transplantation
Hayes D Jr, Benden C, Sweet SC, Conrad CK. (2015): In: Lung, August 2015
- P3-22 Prenatal diagnosis of alveolar capillary dysplasia with misalignment of the pulmonary veins
Jill Nichols, Mary Carroll, Vanderbilt University Medical Center, Nashville, Tennessee, United States
Poster Abstracts of the ISPD 19th International Conference on Prenatal Diagnosis and Therapy, Washington, DC, USA, 12–15 July 2015
http://onlinelibrary.wiley.com/doi/10.1002/pd.4617/full *FREE – Full Article*
ACDMPV was part of the poster session for the 19th “International Conference on Prenatal Diagnosis and Therapy” in Washington, DC, USA on July 12-15, 2015. Vanderbilt University Medical Center prepared a poster based on an experience with a prenatal diagnosis of ACDMPV. A mother had a CVS due to concerns viewed on an ultrasound in the first trimester (cystic hygroma and echogenic bowel) and microarray analysis was done, which detected a deletion in the FOXF1 region. The family received counseling on ACDMPV and the baby was delivered at 39 weeks and unfortunately did not survive past the second day. This work is significant because according to the abstract, “This is the first reported prenatal diagnosis of ACDMPV devoid of a family history.” This summary prepared by Eliza Rista.
- Does paternal imprinting of FOXF1 on 16q24.1 explain the maternal UPD(16) phenotype?
A. V. Dharmadhikar, B. Carofino, J. J. Sun, P. Szafranski, R. Ray, M. J. Justice, M. E. Dickinson, P. Stankiewicz
(C07.1) Abstracts of the European Society of Human Genetics (ESHG2015) European Human Genetics Conference, Glasgow, Scotland, United Kingdom, 6-9 June 2015
https://www.eshg.org *FREE – Abstract* and *FREE – Presentation Materials*
- A late presenter and long-term survivor of alveolar capillary dysplasia with misalignment of the pulmonary veins
Yukie Ito, Takuma Akimoto, Kazutoshi Cho, Masafumi Yamada, Mishie Tanino, Tomoyuki Dobata, Masanori Kitaichi, Satoru Kumaki, Yoshikazu Kinugawa (2015): In: European Journal of Pediatrics, April 2015
- Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease
V. Dharmadhikari, Avinash; Szafranski, Przemyslaw; V. Kalinichenko, Vladimir; Stankiewicz, Pawel. (2015): In: Current Genomics, Volume 16, Number 2.
This is a review article, summarizing recent studies of FOXF1. It discusses where in the body the FOXF1 gene is expressed in humans and mice, the effects on mice who have the FOXF1 gene removed, the effects of duplication of FOXF1 and FOXF1 and cancer. Of relevance to ACDMPV parents, the authors point out that in ACDMPV-affected infants, 44 mutations involving FOXF1 and 36 deletions involving FOXF1 or upstream of FOXF1 have been reported thus far. In infants with ACDMPV for whom it was possible to determine from which parent a deletion arose, in all 24 they arose de novo on the maternal chromosome, consistent with the understanding the FOXF1 is paternally imprinted in human lungs. Thanks to Dr. Simon Ashwell, father to David, for this summary.
- Intrapulmonary vascular shunt pathways in alveolar capillary dysplasia with misalignment of pulmonary veins
Galambos C, Sims-Lucas S, Ali N, Gien J, Dishop MK, Abman SH. (2015): In: Thorax. 2015 Jan;70(1):84-5. doi: 10.1136/thoraxjnl-2014-205851. Epub 2014 Jul 21.
http://www.ncbi.nlm.nih.gov/pubmed/25052575 *FREE – Full Article*
- A Novel Mutation in FOXF1 Gene Associated with a Delayed Presentation of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
Maxine S. Eikani, Vladimir V. Kalinichenko, Arun Pradhan, Julie Noe (2015): In: CRCM Vol.4 No.3, March 2015.
http://www.scirp.org/journal/PaperInformation.aspx?paperID=54786#.VTKALZNLNVc *FREE – Full Article*
- A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia
G C Geddes, D P Dimmock, D A Hehir, D C Helbling, E Kirkpatrick, R Loomba, J Southern, M Waknitz, G Scharer, and G G Konduri, (2015): In: Journal of Perinatology (2015) 35, 155–157. doi:10.1038/jp.2014.187.
- Recurrence of alveolar capillary dysplasia with misalignment of pulmonary veins in two consecutive siblings
Gabriel Nuncio Benevides, Patrícia Picciarelli de Lima, Aloisio Felipe-Silva, Silvana Maria Lovisolo, Ana Maria Andrello Gonçalves Pereira de Melo (2015): In: Autopsy & Case Reports, Hospital Universitário da Universidade de São Paulo, Vol 5, No 1 (2015).
http://www.autopsyandcasereports.org/ojs/index.php/autopsy/article/view/356 *FREE – Full Article*
- Dysplasie alvéolo-capillaire avec mésalignement des veines pulmonaires : une cause de cyanose néonatale réfractaire létale
B. Savey, C. Jeanne-Pasquier, P. Dupont-Chauvet, P. Maragnes, A. Bellot, B. Guillois (2015): In: Archives de Pédiatrie, Volume 22, Issue 2, Pages 185-190.
- Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite.
Dharmadhikari AV, Gambin T, Szafranski P, Cao W, Probst FJ, Jin W, Fang P, Gogolewski K, Gambin A, George-Abraham JK, Golla S, Boidein F, Duban-Bedu B, Delobel B, Andrieux J, Becker K, Holinski-Feder E, Cheung SW, Stankiewicz P. (2014): In: BMC Med Genet. 2014 Dec 4;15:128. doi: 10.1186/s12881-014-0128-z.
http://www.ncbi.nlm.nih.gov/pubmed/25472632 *FREE – Full Article*
Mutations or deletions of the FOXF1 gene cause ACDMPV. The effects of, in effect the opposite, duplications of FOXF1 are unknown. This study investigated the outcomes of FOXF1 duplication. Four unrelated people with duplication of FOXF1 were identified. The first, a 4 1⁄2 year old boy has speech delay, behavioral issues and facial changes but he also has a further genetic abnormality that may account for these. The second, a 13 year old boy, has autism, behavioral problems and limited growth. He has two other genetic abnormalities that again may account for some of these issues. The third patient, an adult, has pyloric stenosis and other gut abnormalities. She has a daughter with similar gut abnormalities to whom she has passed the FOXF1 duplication. The fourth is a 10 1⁄2 year old boy with speech and motor delay and mild learning difficulties.
None of the four have any lung abnormalities. All four have duplications of FOXF1. The first three patients inherited the duplication from healthy fathers. This is consistent with the previous evidence that FOXF1 is paternally imprinted, i.e. the gene inherited from the father is inactive; only the gene inherited from a mother is expressed. However, the third patient inherited the FOXF1 duplication from a healthy father suggesting that FOXF1 is paternally imprinted in the lungs only, as she had gut abnormalities. In the fourth patient, the duplication arose de novo on the maternal chromosome.
The study shows that duplication of FOXF1 does not cause any lung abnormalities but can cause gut abnormalities. Thanks to Dr. Simon Ashwell, father to David, for this summary.
- Alveolar capillary dysplasia with misalignment of the pulmonary veins associated with aortic coarctation and intestinal malrotation
Arreo Del Val V, Avila-Alvarez A, Schteffer LR, Santos F, Deiros L, Del Cerro MJ (2014): In: J Perinatol. 2014 Oct;34(10):795-7. doi: 10.1038/jp.2014.94.
- FOXF1 Transcription Factor Is Required for Formation of Embryonic Vasculature by Regulating VEGF Signaling in Endothelial Cells
Ren X, Ustiyan V, Pradhan A, Cai Y, Havrilak JA, Bolte CS, Shannon JM, Kalin TV, Kalinichenko VV. (2014): In: Circ Res. 2014 Sep 26;115(8):709-20. doi: 10.1161/CIRCRESAHA.115.304382. Epub 2014 Aug 4.
http://www.ncbi.nlm.nih.gov/pubmed/25091710 *FREE – Full Article*
- Fox(y) regulators of VEGF receptors.
Ricard N, Simons M. (2014): In: Circ Res. 2014 Sep 26;115(8):683-5. doi: 10.1161/CIRCRESAHA.114.304974.
http://www.ncbi.nlm.nih.gov/pubmed/25258399 *FREE – Full Article*
- Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.
Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, McEntagart ME, Nagamani SC, Erez A, Bartnik M, Wiśniowiecka-Kowalnik B, Plunkett KS, Pursley AN, Kang SH, Bi W, Lalani SR, Bacino CA, Vast M, Marks K, Patton M, Olofsson P, Patel A, Veltman JA, Cheung SW, Shaw CA, Vissers LE, Vermeesch JR, Lupski JR, Stankiewicz P. (2014): In: Am J Hum Genet. 2014 Aug 7;95(2):173-82. doi: 10.1016/j.ajhg.2014.07.003. Epub 2014 Jul 31.
http://www.ncbi.nlm.nih.gov/pubmed/25087610 *FREE – Full Article*
This research, performed by Professor Pawel Stankiewicz’s group at Baylor, investigated the issue of somatic mosaicism in the transmission of genetic diseases. Somatic mosaicism describes the situation where an individual has more than one type of genetic material in their body (eg both normal and abnormal copies of a gene). This arises due to mutations as our cells divide.
Conventional genetic tests often fail to find somatic mosaicism as it is often low-level (sometimes <1% of DNA) and thus cannot be detected. This has resulted in children with genetic diseases from parents with apparently normal DNA being labelled incorrectly as having a new ‘de novo’ genetic abnormality.
The researchers identified 100 parental couples who had had infants with apparently de novo mutations leading to a variety of genetic conditions. Families with ACDMPV were not included in the study but its results have some relevance to the ACDMPV community.
All families had been investigated with conventional genetic testing and neither parent had been found not the carry the genetic abnormality affecting their child. The researchers then developed novel detailed techniques to look more closely in the parents’ blood DNA in the specific area of genetic abnormality that were found in their child. Using these techniques 4 parents (4%), 2 mothers and 2 fathers, were found to have somatic mosaicism that was responsible for their child inheriting the condition. The parents’ amount of mosaicism (abnormal DNA) varied from less than 1% to 9% of total DNA.
The researchers developed a computer model to explore issues around recurrence risk. They calculated that, by virtue of having had a child with an apparently de novo genetic disorder, the risk of a couple having a second affected child is approximately 0.1% (one in a thousand). The risk was much higher in parents who were found to have mosaicism detected in blood DNA than those that did not. Parents of affected infants without detectable somatic mosaicism are likely to have mosaicism limited to eggs or sperm, but testing to confirm this is currently not possible. Mothers with mosaicism (as is always the route of transmission to an infant with ACDMPV) have a higher risk of recurrence than fathers as they tend to carry a higher proportion of affected eggs vs. sperm.
The take-home message for the ACDMPV community is that the risk for a couple of having a subsequent infant with ACDMPV might be able to be predicted by testing them for somatic mosaicism. Its absence would suggest a low chance of subsequent pregnancies being affected by ACDMPV. This might help in making decisions about pre-natal testing. Importantly this requires first the identification of a FOXF1 deletion in the affected infant. The lab is unable to test for somatic mosaicism in the parents of infants with ACDMPV who have a FOXF1 mutation due to unreliability of this test at such levels.
Professor Stankiewicz tells me that the Baylor lab routinely tests for low-level somatic mosaicism in parents of infants with ACDMPV who have FOXF1 deletions. So far none of 22 tested families have demonstrated mosaicism. Thanks to Dr. Simon Ashwell, father to David, for this summary.
- Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins.
Przemyslaw Szafranski, Avinash V. Dharmadhikari, Jennifer A. Wambach, Chris T. Towe, Frances V. White, R. Mark Grady, Pirooz Eghtesady, F. Sessions Cole, Gail Deutsch, Partha Sen and Pawel Stankiewicz
(2014): In: Am J Med Genet A. 2014 August ; 164(8): 2013–2019. doi:10.1002/ajmg.a.36606.
http://www.ncbi.nlm.nih.gov/pubmed/24842713 *FREE – Full Article*
- Hereditary interstitial lung diseases manifesting in early childhood in Japan.
Akimoto T, Cho K, Hayasaka I, Morioka K, Kaneshi Y, Furuta I, Yamada M, Ariga T, Minakami H. (2014): In: Pediatr Res. 2014 Nov;76(5):453-8. doi: 10.1038/pr.2014.114. Epub 2014 Aug 8.
- Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV)—awareness prevents extended or futile ECMO use
Ullas Angadi, Vishnuvardhan Meedimale, Simon Robinson (2014): In: Indian Journal of Thoracic and Cardiovascular Surgery, June 2014, Volume 30, Issue 2, pp 147-151
- Comparative Analyses of Lung Transcriptomes in Patients with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins and in Foxf1 Heterozygous Knockout Mice
Partha Sen, Avinash V. Dharmadhikari, Tadeusz Majewski, Mahmoud A. Mohammad,Tanya V. Kalin, Joanna Zabielska, Xiaomeng Ren, Molly Bray, Hannah M. Brown, Stephen Welty, Sundararajah Thevananther, Claire Langston, Przemyslaw Szafranski, Monica J. Justice, Vladimir V. Kalinichenko, Anna Gambin, John Belmont, Pawel Stankiewicz. (2014): In: PLOS ONE Vol 9 Issue 4 (April 2014)
http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0094390 *FREE – Full Article*
- The use of early lung biopsy in detection of fatal pulmonary disease in the neonate.
Deshmukh H, Lioy J. (2014): In: J Pediatr. 2014 Apr;164(4):934-6. doi: 10.1016/j.jpeds.2013.11.035. Epub 2013 Dec 24.
- Alveolar capillary dysplasia with multiple congenital anomalies and bronchoscopic airway abnormalities
V Bellamkonda-Athmaram, C G Sulman, D G Basel, J Southern, G G Konduri and M A Basir (2014): In: Journal of Perinatology (2014) 34, 326–328; doi:10.1038/jp.2013.175
- FOXF1 Transcription Gene Testing in a Case of Late Presentation Alveolar Capillary Dysplasia.
Sharon Thomas, Mudit Mathur, Thomas Bahk. (2014): In: Chest (Impact Factor: 7.13). 03/2014; 145(3 Suppl):445A. DOI: 10.1378/chest.1835561.
- Three-dimensional reconstruction identifies misaligned pulmonary veins as intrapulmonary shunt vessels in alveolar capillary dysplasia.
Galambos C, Sims-Lucas S, Abman SH. (2014): In: J Pediatr. 2014 January ; 164(1): 192–195. doi:10.1016/j.jpeds.2013.08.035
http://www.ncbi.nlm.nih.gov/pubmed/24079727 *FREE – Full Article*
- Alveolar Capillary Dysplasia: A Genetically Determined Disruption Of The Alveolar/mesenchymal Cross-talk Causing Neonatal Hypoxic Failure
C Lizama, D Peca, PE Cogo, I Stucin-Gantar, P Ursell, A Zovein, A VanHeijst, O Danhaive. (2014): In: Arch Dis Child 2014;99:A188 doi:10.1136/archdischild-2014-307384.508
http://adc.bmj.com/content/99/Suppl_2/A188.2.abstract *FREE – Full Article*
- Paracorporeal lung assist devices as a bridge to recovery or lung transplantation in neonates and young children.
Hoganson DM, Gazit AZ, Boston US, Sweet SC, Grady RM, Huddleston CB, Eghtesady P. (2014): In: J Thorac Cardiovasc Surg. 2014 Jan;147(1):420-6. doi: 10.1016/j.jtcvs.2013.08.078. Epub 2013 Nov 4.
http://www.ncbi.nlm.nih.gov/pubmed/24199759 *FREE – Full Article*
- Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins.
Szafranski P1, Yang Y, Nelson MU, Bizzarro MJ, Morotti RA, Langston C, Stankiewicz P. (2013): In: Hum Mutat. 2013 Nov;34(11):1467-71. doi: 10.1002/humu.22395. Epub 2013 Sep 4.
http://www.ncbi.nlm.nih.gov/pubmed/23943206 *FREE – Full Article*
- Early Echocardiographic Predictors of Alveolar Capillary Dysplasia: A Case-Control Study.
Arcinue, R., T. Stavroudis, S. Noori, S. Bhombal, J. Szmuszkovicz, and P. Friedlich. (2013): In: The Journal of Heart and Lung Transplantation 32, no. 4 (2013): S291.
- Alveolar capillary dysplasia with misalignment of pulmonary veins with a wide spectrum of extrapulmonary manifestations.
Nguyen L, Riley MM, Sen P, Galambos C. (2013): In: Pathol Int. 2013 Oct;63(10):519-21. doi: 10.1111/pin.12102.
- Alveolar capillary dysplasia with misalignment of pulmonary veins: concordance between pathological and molecular diagnosis
Y Castilla-Fernandez, C Copons-Fernández, R Jordan-Lucas, Á Linde-Sillo, I Valenzuela-Palafoll, J C Ferreres Piñas, A Moreno-Galdó and F Castillo-Salinas. (2013): In: Journal of Perinatology 33, 401-403 (May 2013) | doi:10.1038/jp.2012.63
- Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain
Sen P, Yang Y, Navarro C, Silva I, Szafranski P, Kolodziejska KE, Dharmadhikari AV, Mostafa H, Kozakewich H, Kearney D, Cahill JB, Whitt M, Bilic M, Margraf L, Charles A, Goldblatt J, Gibson K, Lantz PE, Garvin AJ, Petty J, Kiblawi Z, Zuppan C, McConkie-Rosell A, McDonald MT, Peterson-Carmichael SL, Gaede JT, Shivanna B, Schady D, Friedlich PS, Hays SR, Palafoll IV, Siebers-Renelt U, Bohring A, Finn LS, Siebert JR, Galambos C, Nguyen L, Riley M, Chassaing N, Vigouroux A, Rocha G, Fernandes S, Brumbaugh J, Roberts K, Ho-Ming L, Lo IF, Lam S, Gerychova R, Jezova M, Valaskova I, Fellmann F, Afshar K, Giannoni E, Muhlethaler V, Liang J, Beckmann JS, Lioy J, Deshmukh H, Srinivasan L, Swarr DT, Sloman M, Shaw-Smith C, van Loon RL, Hagman C, Sznajer Y, Barrea C, Galant C, Detaille T, Wambach JA, Cole FS, Hamvas A, Prince LS, Diderich KE, Brooks AS, Verdijk RM, Ravindranathan H, Sugo E, Mowat D, Baker ML, Langston C, Welty S, Stankiewicz P. (2013): In: Human Mutation
http://www.ncbi.nlm.nih.gov/pubmed/23505205 *FREE – Full Article*
This paper updates the publication by the same authors in 2009 in which they reported for the first time that abnormalities (mutations and deletions) in the FOXF1 gene and the area of chromosome 16 around the gene are responsible for ACDMPV. The 2009 paper found such abnormalities in 40% infants with ACDMPV. Since this publication, material has been collected from a further 47 infants. Thirty new de novo (see below) mutations in FOXF1 are described. This means that of the 93 infants with ACDMPV that Dr Sen’s group has studied 61% have been found to have a mutation in FOXF1 or a deletion around FOXF1. This confirms the role of abnormalities in the FOXF1 gene as the major cause of ACDMPV.
Two familial cases of ACDMPV are described. These confirm that FOXF1 is subject to paternal imprinting. This means that the FOXF1 gene inherited by an infant from his or her father is inactivated, but the gene inherited from the mother is active and expressed. Thus if an abnormality in FOXF1 develops in the production of an egg by a female (which occurs when she is in utero), this is expressed and will result in an infant with ACDMPV. However, if a similar abnormality occurs in the production of a sperm (by a mature man) the resulting infant will not have ACDMPV as FOXF1 is inactivated. However, the individual will be a carrier of the abnormality and can pass it on to his or her offspring. A female carrier can pass the abnormality to her children, which will result in ACDMPV.
The incidence of familial cases of ACDMPV in Dr. Sen’s combined series is approximately 2%. Dr. Sen mentions that his group is the only one in the world studying FOXF1 in relation to ACDMPV and that they operate a service to detect FOXF1 mutations and deletions pre- or post-natally on a research basis. Thanks to Dr. Simon Ashwell, father to David, for this summary.
- Deletions In 16Q24.2 are Associated with Autism Spectrum Disorder, Intellectual Disability and Congenital Renal Malformation.
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Parris, Toshima; Nik, Ali Moussavi; Kotecha, Sailesh; Langston, Claire; Helou, Khalil; Platt, Craig; Carlsson, Peter (2013): In: Am J Med Genet A.
This is a report of an infant with ACDMPV in which a novel genetic abnormality is described. The abnormality was detected by karyotyping. The infant was found to have a part of chromosome 16 inverted, close to the FOXF1 gene. The paper thus adds to the list of abnormalities of chromosome 16 that can cause ACDMPV. Thanks to Dr. Simon Ashwell, father to David, for this summary.
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http://www.ncbi.nlm.nih.gov/pubmed/23034409 *FREE – Full Article*
It is now well known that genetic errors (deletions and mutations) within the FOXF1 gene are responsible for some cases of ACDMPV.
It has been predicted that the FOXF1 gene is subject to paternal imprinting. This means that the FOXF1 gene inherited from the father is partially inactivated and silent, leaving only the gene inherited from the mother active and expressed. Recent work has supported this prediction.
In this study blood was taken from 9 infants with ACDMPV who did not have mutations in the FOXF1 gene. A test called comparative genomic hybridisation (CGH) was performed at 16q24.1, the area of chromosome 16 in which FOXF1 is found. CGH can detect gains or losses in DNA.
One of the 9 infants had a deletion of the entire FOXF1 gene. In the remaining 8 infants, deletions were found in the DNA distant and upstream from FOXF1. These deletions affected an area of the DNA that is involved in the regulation of the FOXF1 gene. None of these deletions were found in their parents blood and thus represent new (de novo) genetic errors. All of the deletions arose on the chromosome that the infant inherited from its mother. They thus represent abnormalities in chromosome replication when an egg is being made in a mother’s ovary. The study additionally showed that FOXF1 is not expressed equally from maternal and paternal DNA, further confirming paternal imprinting.
This study adds to the body of ACDMPV research to date in agreeing that mutations in or around the FOXF1 gene are passed to the affected infant through the mother, whether this be though de novo changes or familial cases of ACDMPV. It also shows that deletions upstream from the FOXF1 gene are commonly detected using CGH in infants with ACDMPV who do not have a mutation of the FOXF1 gene itself, further stressing the importance of CGH in the genetic assessment of infants with ACDMPV. This can be particularly helpful for parents interested in pre-natal diagnosis of future pregnancies. Thanks to Dr. Simon Ashwell, father to David, for this summary.
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