title: Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia.
abstract: Congenital diaphragmatic hernia (CDH) has an incidence of around 1/3000 births. Chromosomal anomalies constitute an important etiology for non-isolated CDH, and may participate to the identification of candidate genes for diaphragm development. We report on a microduplication identified by array-CGH (comparative genomic hybridization) including five contiguous genes (OPHN1, YIPF6, STARD8, EFNB1 and PJA1) and arising de novo in a male presenting a congenital diaphragmatic hernia (CDH). Our case is the second report of EFNB1 duplication associated with CDH in a male patient, supporting its implication sensitive to gene dosage in diaphragm development.
authors.affiliation: Service de Génétique Clinique, Hôpital Jeanne de Flandre, Lille, France. florence.petit@chru-lille.fr
authors.forename: Florence
authors.initials: F
authors.lastname: Petit
authors.forename: Joris
authors.initials: J
authors.lastname: Andrieux
authors.forename: Muriel
authors.initials: M
authors.lastname: Holder-Espinasse
authors.forename: Sonia
authors.initials: S
authors.lastname: Bouquillon
authors.forename: Thomas
authors.initials: T
authors.lastname: Pennaforte
authors.forename: Laurent
authors.initials: L
authors.lastname: Storme
authors.forename: Sylvie
authors.initials: S
authors.lastname: Manouvrier-Hanu
mesh_terms: D002871:Chromosome Banding; D041321:Chromosomes, Human, X / Q000235:genetics; D055028:Comparative Genomic Hybridization; D036387:Ephrin-B1 / Q000235:genetics*; D018628:Gene Dosage; D006548:Hernia, Diaphragmatic / Q000235:genetics; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D010641:Phenotype; D012729:Sex Chromosome Aberrations; D025064:Sex Chromosome Disorders / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*
chemical_list: C484288:EFNB1 protein, human; D036387:Ephrin-B1