Journal article
Novel FOXF1 mutations in sporadic and familial cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins imply a role for its DNA binding domain
Human mutation, Vol.34(6), pp.801-811
06/2013
DOI: 10.1002/humu.22313
PMCID: PMC3663886
PMID: 23505205
Abstract
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Non-pulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with ACD/MPV. We have collected DNA and pathological samples from more than 90 infants with ACD/MPV and their family members. Since the publication of our initial report of four point mutations and ten deletions, we have identified an additional thirty eight novel nonsynonymous mutations of
Details
- Title: Subtitle
- Novel FOXF1 mutations in sporadic and familial cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins imply a role for its DNA binding domain
- Creators
- Partha Sen - Department of Pediatrics, Baylor College of Medicine, Houston, TX, USAYaping Yang - Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USAColby Navarro - Department of Pediatrics, Baylor College of Medicine, Houston, TX, USAIris Silva - Department of Pediatrics, Baylor College of Medicine, Houston, TX, USAPrzemyslaw Szafranski - Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USAKatarzyna E Kolodziejska - Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USAAvinash V Dharmadhikari - Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USAHasnaa Mostafa - Department of Pediatrics, Baylor College of Medicine, Houston, TX, USAHarry Kozakewich - Department of Pathology, Children’s Hospital Boston, Boston, MA, USADebra Kearney - Department of Pathology, Texas Children’s Hospital, Houston, TX, USAJohn B Cahill - Department of Pediatrics, Medical University of South Carolina, Charleston, SC, USAMerrissa Whitt - Department of Pediatrics, Medical University of South Carolina, Charleston, SC, USAMasha Bilic - Department of Pathology and Lab Medicine, Medical University of South Carolina, Charleston, SC, USALinda Margraf - Department of Pathology, University of Texas Southwestern Medical School, Dallas, TX, USAAdrian Charles - Department of Paediatric Pathology, University of Western Australia, Princess Margaret Hospital for Children, Western Australia, AustraliaJack Goldblatt - Genetic Services of WA, School of Paediatrics and Child Health, University of Western Australia, Western Australia, AustraliaKathleen Gibson - Department of Pathology, Wake Forest University, Baptist Medical Center, Winston-Salem, NC, USAPatrick Lantz - Department of Pathology, Wake Forest University, Baptist Medical Center, Winston-Salem, NC, USAJulian Garvin - Department of General Surgery, Wake Forest University, Baptist Medical Center, Winston-Salem, NC, USAJohn Petty - Department of General Surgery, Wake Forest University, Baptist Medical Center, Winston-Salem, NC, USAZeina Kiblawi - Division of Neonatology, Harbor-UCLA Medical Center, Torrance, CA, USACraig Zuppan - Pediatric Pathology Division, Loma Linda University Medical Center, Loma Linda, CA, USAAllyn McConkie-Rosell - Department of Pediatrics, Duke University Medical Center, Durham, NC, USAMarie T McDonald - Department of Pediatrics, Duke University Medical Center, Durham, NC, USAStacey L Peterson-Carmichael - Department of Pediatrics, Duke University Medical Center, Durham, NC, USAJane T Gaede - Department of Pathology, Duke University Medical Center, Durham, NC, USABinoy Shivanna - Department of Pediatrics, Baylor College of Medicine, Houston, TX, USADeborah Schady - Department of Pathology, Texas Children’s Hospital, Houston, TX, USAPhilippe S Friedlich - USC Division of Neonatal Medicine, Keck School of Medicine, Los Angeles, CA, USAStephen R Hays - Anesthesiology and Pediatrics, Vanderbilt University School of Medicine, Nashville, TN, USAIrene Valenzuela Palafoll - Unitat de Genètica Clínica, Hospital Vall d’Hebrón, Barcelona, SpainUlrike Siebers-Renelt - Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, GermanyAxel Bohring - Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, GermanyLaura S Finn - Department of Laboratories, Seattle Children’s Hospital and Department of Pathology, University of Washington, Seattle, WA, USAJoseph R Siebert - Department of Laboratories, Seattle Children’s Hospital and Department of Pathology, University of Washington, Seattle, WA, USACsaba Galambos - Department of Pathology, University of Pittsburgh, PA, USALananh Nguyen - Department of Pathology, University of Pittsburgh, PA, USAMelissa Riley - Department of Pediatrics, University of Pittsburgh, PA, USANicolas Chassaing - Department of Medical Genetics, CHU Toulouse, Purpan Hospital, Toulouse, FranceAdeline Vigouroux - Department of Medical Genetics, CHU Toulouse, Purpan Hospital, Toulouse, FranceGustavo Rocha - Department of Pediatrics, Hospital de Sao Joao, Porto, PortugalSusana Fernandes - Department of Genetics, Faculty of Medicine, Porto University, Porto, PortugalJane Brumbaugh - Department of Pediatrics, University of Minnesota, MN, USAKari Roberts - Department of Pediatrics, University of Minnesota, MN, USALuk Ho-ming - Clinical Genetic Service, Department of Health, Hong Kong SAR, ChinaIvan Lo - Clinical Genetic Service, Department of Health, Hong Kong SAR, ChinaStephen Lam - Clinical Genetic Service, Department of Health, Hong Kong SAR, ChinaRomana Gerychova - Department of Obstetrics and Gynecology, Masaryk University, Brno, Czech RepublicMarta Jezova - Department of Pathology, Masaryk University, Brno, Czech RepublicIveta Valaskova - Department of Medical Genetics, Masaryk University, Brno, Czech RepublicFlorence Fellmann - Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne, SwitzerlandKatayoun Afshar - Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne, SwitzerlandEric Giannoni - Neonatology Service, Lausanne University Hospital, Lausanne, SwitzerlandVincent Muhlethaler - Neonatology Service, Lausanne University Hospital, Lausanne, SwitzerlandJinlong Liang - BGI-BGI Research, Shenzhen, ChinaJacques S Beckmann - Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne, SwitzerlandJanet Lioy - Division of Neonatology, Children’s Hospital of Philadelphia, Philadelphia, PA, USAHitesh Deshmukh - Division of Neonatology, Children’s Hospital of Philadelphia, Philadelphia, PA, USALakshmi Srinivasan - Division of Neonatology, Children’s Hospital of Philadelphia, Philadelphia, PA, USADaniel T Swarr - Division of Neonatology, Children’s Hospital of Philadelphia, Philadelphia, PA, USAMelissa Sloman - Department of Molecular Genetics, Royal Devon and Exeter Hospital, Exeter, UKCharles Shaw-Smith - Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, UKRosa Laura van Loon - Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The NetherlandsCecilia Hagman - Department of Neonatology, Skane University Hospital, Lund, SwedenYves Sznajer - Center for Human Genetics, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, BelgiumCatherine Barrea - Pediatrics Department, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, BelgiumChristine Galant - Pathology Department, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, BelgiumThierry Detaille - Pediatric Intensive Care Unit, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, BelgiumJennifer A Wambach - Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USAF. Sessions Cole - Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USAAaron Hamvas - Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USALawrence S Prince - Division of Neonatology, Vanderbilt University School of Medicine, Nashville, TN, USAKarin E.M Diderich - Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The NetherlandsAlice S Brooks - Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The NetherlandsRob M Verdijk - Department of Pathology, Erasmus Medical Center, Rotterdam, The NetherlandsHari Ravindranathan - Children’s Intensive Care, The University of NSW, Sydney, NSW AustraliaElla Sugo - Department of Anatomical Pathology, The University of NSW, Sydney, NSW AustraliaDavid Mowat - Department of Anatomical Pathology, The University of NSW, Sydney, NSW AustraliaMichael L Baker - Baylor College of MedicineClaire Langston - Department of Pathology, Texas Children’s Hospital, Houston, TX, USAStephen Welty - Department of Pediatrics, Baylor College of Medicine, Houston, TX, USAPawel Stankiewicz - Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA
- Resource Type
- Journal article
- Publication Details
- Human mutation, Vol.34(6), pp.801-811
- DOI
- 10.1002/humu.22313
- PMID
- 23505205
- PMCID
- PMC3663886
- NLM abbreviation
- Hum Mutat
- ISSN
- 1059-7794
- eISSN
- 1098-1004
- Grant note
- R01 HL101975 || HL / National Heart, Lung, and Blood Institute : NHLBI
- Language
- English
- Date published
- 06/2013
- Academic Unit
- Stead Family Department of Pediatrics; Anesthesia
- Record Identifier
- 9984006466902771
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