ArticleHuman genetics2016
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
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Article in Human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
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57citing papers in PubMed
11.8field-weighted citation impact, top 1% of its field
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Who cites it
57 citing papers in PubMed, 168 citations in OpenAlex.
- Alveolar capillary dysplasia: an example of health system data to understand rare conditions.Pediatric research · 2026Article
- LINC01082 inhibits malignant phenotypes of bladder cancer through sponging miR-1269a.World journal of surgical oncology · 2025Article
- Article
- Review
- Why some and not others? Understanding vascular phenotypes in genetic developmental lung diseases.Current opinion in pediatrics · 2025Review
- Beyond Bronchopulmonary Dysplasia: A Comprehensive Review of Chronic Lung Diseases in Neonates.Cureus · 2024Review
- Identification of endothelial and mesenchymal FOXF1 enhancers involved in alveolar capillary dysplasia.Nature communications · 2024Article
- Multilamellated Basement Membranes in the Capillary Network of Alveolar Capillary Dysplasia.The American journal of pathology · 2024Article
- Reduced FOXF1 links unrepaired DNA damage to pulmonary arterial hypertension.Nature communications · 2023Article
- Further refinement of the differentially methylated distant lung-specific FOXF1 enhancer in a neonate with alveolar capillary dysplasia.Clinical epigenetics · 2023Article
- A Small De Novo CNV Deletion of the Paternal Copy ofNon-coding RNA · 2023Article
- Single Cell Multiomics Identifies Cells and Genetic Networks Underlying Alveolar Capillary Dysplasia.American journal of respiratory and critical care medicine · 2023Article
- Prenatal Detection of aGenes · 2023Article
- Haploinsufficiencies of FOXF1, FOXC2 and FOXL1 genes originated from deleted 16q24.1q24.2 fragment related with alveolar capillary dysplasia with misalignment of pulmonary veins and lymphedema-distichiasis syndrome: relationship to phenotype.Molecular cytogenetics · 2022Article
- High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV.Molecular genetics & genomic medicine · 2022Article
- Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant.European journal of human genetics : EJHG · 2022Article
- Ultrasound findings in neonates with alveolar capillary dysplasia with misalignment of the pulmonary veins: report of two cases.The Journal of international medical research · 2022Article
- Microdeletion of 16q24.1-q24.2-A unique etiology of Lymphedema-Distichiasis syndrome and neurodevelopmental disorder.American journal of medical genetics. Part A · 2022Article
- Transcriptome and Immunohistochemical Analyses inAmerican journal of respiratory cell and molecular biology · 2022Article
- Do paternal deletions involving the FOXF1 locus on chromosome 16q24.1 manifest with more severe non-lung anomalies?European journal of medical genetics · 2022Article
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Authors and funding
93 authors at 20 institutions in 10 countries.
Przemyslaw SzafranskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.
Tomasz GambinDepartment of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.
Avinash V DharmadhikariDepartment of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.
Kadir Caner AkdemirGenomic Medicine Department, MD Anderson Cancer Center, Houston, TX, USA.
Shalini N JhangianiDepartment of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.
Jennifer SchuetteDivision of Pediatric Anesthesia and Critical Care Medicine, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
Nihal GodiwalaDivision of Critical Care Medicine, Children's National Health System, Washington, DC, USA.
Svetlana A YatsenkoDepartment of Obstetrics, Gynecology, and Reproductive Sciences, Center for Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, PA, USA.
Jessica SebastianDivision of Medical Genetics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.
Suneeta Madan-KhetarpalDivision of Medical Genetics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.
Urvashi SurtiDepartment of Obstetrics, Gynecology, and Reproductive Sciences, Center for Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, PA, USA.
Rosanna G AbellarDepartment of Pathology, Columbia University Medical Center, New York, NY, USA.
David A BatemanDepartment of Pediatrics, Columbia University Medical Center, New York, NY, USA.
Ashley L WilsonChildren's Hospital of New York-Presbyterian, New York, NY, USA.
Melinda H MarkhamDivision of Neonatology, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.
Jill SlamonDivision of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Vanderbilt University Medical Center, Nashville, TN, USA.
Fernando Santos-SimarroINGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Madrid, Spain.
María PalomaresINGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Madrid, Spain.
Julián NevadoINGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Madrid, Spain.
Pablo LapunzinaINGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Madrid, Spain.
Brian Hon-Yin ChungDepartment of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China.
Wai-Lap WongDepartment of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China.
Yoyo Wing Yiu ChuDepartment of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China.
Gary Tsz Kin MokDepartment of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China.
Eitan KeremPediatric Pulmonary Unit, Department of Pediatrics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Joel ReiterPediatric Pulmonary Unit, Department of Pediatrics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Namasivayam AmbalavananDepartment of Pediatrics, University of Alabama at Birmingham, Birmingham, AL, USA.
Scott A AndersonDivision of Pediatric Surgery, Department of Surgery, University of Alabama at Birmingham and Children's of Alabama, Birmingham, AL, USA.
David R KellyDepartment of Pathology, University of Alabama at Birmingham and Pathology and Laboratory Medicine Service, Children's of Alabama, Birmingham, AL, USA.
Joseph ShiehDivision of Medical Genetics, Department of Pediatrics, and Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
Taryn C RosenthalGenetics Department, Kaiser Permanente San Jose Medical Center, San Jose, CA, USA.
Kristin ScheibleDivision of Neonatology, Department of Pediatrics, University of Rochester, Rochester, NY, USA.
Laurie SteinerDivision of Neonatology, Department of Pediatrics, University of Rochester, Rochester, NY, USA.
M Anwar IqbalPathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, NY, USA.
Margaret L McKinnonDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
Sara Jane HamiltonDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
Kamilla Schlade-BartusiakDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
Dawn EnglishDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
Glenda HendsonDepartment of Pathology, University of British Columbia, Vancouver, Canada.
Elizabeth R RoederDepartment of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.
Thomas S DeNapoliDepartment of Pathology, Children's Hospital of San Antonio, San Antonio, TX, USA.
Rebecca Okashah LittlejohnDepartment of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.
Daynna J WolffDepartment of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC, USA.
Carol L WagnerDepartment of Pediatrics, Medical University of South Carolina, Charleston, SC, USA.
Alison YeungVictorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, VIC, Australia.
David FrancisVictorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, VIC, Australia.
Elizabeth K FiorinoDivision of Pediatric Pulmonary Medicine, The Children's Heart Center Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park, NY, USA.
Morris EdelmanDivision of Pediatric Pathology, The Children's Heart Center Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park, NY, USA.
Joyce FoxDivision of Medical Genetics, Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park, NY, USA.
Denise A HayesPediatric Cardiology, The Children's Heart Center Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park, NY, USA.
Sandra JanssensCenter for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.
Elfride De BaereCenter for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.
Björn MentenCenter for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.
Anne LoccufierDepartment of Obstetrics, Gynaecology, and Fertility, AZ St Jan Brugge, Brugge, Belgium.
Lieve VanwalleghemDepartment of Anatomopathology, AZ St Jan Brugge, Brugge, Belgium.
Philippe MoermanDepartment of Pathology, UZ Leuven, Louvain, Belgium.
Yves SznajerCenter for Human Genetics, Cliniques Universitaires St-Luc, Universite Catholique de Louvain, Brussels, Belgium.
Amy S LayDivision of Pediatric Cardiology, Children's Mercy Hospital, Kansas City, MS, USA.
Jennifer L KussmannDivision of Clinical Genetics, Children's Mercy Hospital, Kansas City, MS, USA.
Jasneek ChawlaDivision of Paediatric Respiratory and Sleep Medicine, Lady Cilento Children's Hospital, Children's Health Queensland Hospital and Health Service, Brisbane, QLD, Australia.
Diane J PaytonDivision of Anatomical Pathology, Lady Cilento Children's Hospital, Children's Health Queensland Hospital and Health Service, Brisbane, QLD, Australia.
Gael E PhillipsDivision of Anatomical Pathology, Lady Cilento Children's Hospital, Children's Health Queensland Hospital and Health Service, Brisbane, QLD, Australia.
Erwin BrosensClinical Genetics Department, Erasmus MC-Sophia, Rotterdam, The Netherlands.
Dick TibboelPaediatric Surgery, Erasmus MC-Sophia, Rotterdam, The Netherlands.
Annelies de KleinClinical Genetics Department, Erasmus MC-Sophia, Rotterdam, The Netherlands.
Isabelle MaystadtCentre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
Richard FisherJames Cook University Hospital, Middlesborough, UK.
Neil SebireDepartment of Paediatric Histopathology, Great Ormond Street Hospital for Children and UCL Institute of Child Health, London, UK.
Alison MaleClinical Genetics Unit, Great Ormond Street Hospital for Children and UCL Institute of Child Health, London, UK.
Maya ChopraDepartment of Medical Genomics, Royal Prince Alfred Hospital, Sydney, NSW, Australia.
Jason PinnerDepartment of Medical Genomics, Royal Prince Alfred Hospital, Sydney, NSW, Australia.
Girvan MalcolmDepartment of Newborn Care, Royal Prince Alfred Hospital, Sydney, NSW, Australia.
Gregory PetersCytogenetics Department, The Children's Hospital at Westmead, Westmead, NSW, Australia.
Susan ArbuckleHistopathology Department, The Children's Hospital at Westmead, Westmead, NSW, Australia.
Melissa LeesClinical Genetics Unit, Great Ormond Street Hospital for Children and UCL Institute of Child Health, London, UK.
Zoe MeadDepartment of Histopathology, Addenbrooke's NHS Trust Pathology Department, Addenbrooke's Hospital, Cambridge, UK.
Oliver QuarrellDepartment of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.
Richard SayersDepartment of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.
Martina OwensMolecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
Charles Shaw-SmithMolecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
Janet LioyDivision of Neonatology, The Children's Hospital of Philadelphia, The University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA.
Eileen McKayDepartment of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Nicole de LeeuwDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Ilse FeenstraDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Liesbeth SpruijtDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Frances ElmslieSouth West Thames Regional Genetics Service, St George's University Hospital, London, UK.
Timothy ThiruchelvamCritical Care and Cardiorespiratory Unit, Great Ormond Street Hospital NHS Trust, London, UK.
Carlos A BacinoDepartment of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.
Claire LangstonDepartment of Pathology and Immunology, Baylor College of Medicine, Houston, TX, USA.
James R LupskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.
Partha SenDepartment of Pediatrics, Northwestern University, Chicago, IL, USA.
Edwina PopekDepartment of Pathology and Immunology, Baylor College of Medicine, Houston, TX, USA.
Paweł StankiewiczDepartment of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA. pawels@bcm.edu.
Baylor College of Medicine · USUniversity of British Columbia · CAUniversity of Hong Kong · HKErasmus MC - Sophia Children’s Hospital · NLGhent University Hospital · BEGreat Ormond Street Hospital · GBInstituto de Salud Carlos III · ESRoyal Prince Alfred Hospital · AUUniversity of Alabama at Birmingham · USAZ Sint-Jan · BEChildren’s Health Queensland Hospital and Health Service · AUChildren's Hospital at Westmead · AUChildren's Hospital of Pittsburgh · USChildren's Mercy Hospital · USCohen Children's Medical Center · USColumbia University Irving Medical Center · USHadassah Medical Center · ILMedical University of South Carolina · USMurdoch Children's Research Institute · AURadboud University Medical Center · NL
Funding
Baylor-Johns Hopkins Center for Mendelian GeneticsU54HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2012 to 2015
$15.6MBaylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5MNonrecurrent rearrangements, genome architecture and neurodegenerative disease.R01NS058529 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2009 to 2017
$5.0MPathogenetics of the FOX transcription factor gene cluster on 16q24.1R01HL101975 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI STANKIEWICZ, PAWEL · 2010 to 2013
$1.8MNHGRI NIH HHS HG006542NHGRI NIH HHS U54 HG006542NHGRI NIH HHS UM1 HG006542NHLBI NIH HHS R01 HL101975NHLBI NIH HHS R01HL101975NINDS NIH HHS NS058529NINDS NIH HHS R01 NS058529
Abstract
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy-number variants (CNVs) of FOXF1 or its upstream enhancer involving fetal lung-expressed long noncoding RNA genes LINC01081 and LINC01082. Using custom-designed array comparative genomic hybridization, Sanger sequencing, whole exome sequencing (WES), and bioinformatic analyses, we studied 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. We describe novel deletion CNVs at the FOXF1 locus in 13 unrelated ACDMPV patients. Together with the previously reported cases, all 31 genomic deletions in 16q24.1, pathogenic for ACDMPV, for which parental origin was determined, arose de novo with 30 of them occurring on the maternally inherited chromosome 16, strongly implicating genomic imprinting of the FOXF1 locus in human lungs. Surprisingly, we have also identified four ACDMPV families with the pathogenic variants in the FOXF1 locus that arose on paternal chromosome 16. Interestingly, a combination of the severe cardiac defects, including hypoplastic left heart, and single umbilical artery were observed only in children with deletion CNVs involving FOXF1 and its upstream enhancer. Our data demonstrate that genomic imprinting at 16q24.1 plays an important role in variable ACDMPV manifestation likely through long-range regulation of FOXF1 expression, and may be also responsible for key phenotypic features of maternal uniparental disomy 16. Moreover, in one family, WES revealed a de novo missense variant in ESRP1, potentially implicating FGF signaling in the etiology of ACDMPV.
Indexed as
Genome, HumanGenomic ImprintingChromosomes, Human, Pair 16Comparative Genomic HybridizationFemaleForkhead Transcription FactorsGenes, LethalHigh-Throughput Nucleotide SequencingHumansInfant, NewbornMalePedigreePersistent Fetal Circulation SyndromePulmonary AlveoliPulmonary VeinsSequence DeletionForkhead Transcription FactorsFOXF1 protein, human
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