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Updated: May 30, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia
Florence Petit1, Joris Andrieux, Muriel Holder-Espinasse
1Service de Génétique Clinique, Hôpital Jeanne de Flandre, Lille, France. florence.petit@chru-lille.fr
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.
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