一名患有先天性膈疝的男孩中，Xq12q13.1区域的微重复包含EFNB1基因。
Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia.
作者信息
Petit Florence, Andrieux Joris, Holder-Espinasse Muriel, Bouquillon Sonia, Pennaforte Thomas, Storme Laurent, Manouvrier-Hanu Sylvie
机构信息
Service de Génétique Clinique, Hôpital Jeanne de Flandre, Lille, France.
出版信息
Eur J Med Genet. 2011 Sep-Oct;54(5):e525-7. doi: 10.1016/j.ejmg.2011.06.011. Epub 2011 Jul 14.
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.
先天性膈疝（CDH）的发病率约为每3000例出生中有1例。染色体异常是非孤立性CDH的重要病因，可能有助于确定膈肌发育的候选基因。我们报告了一例通过阵列比较基因组杂交（array-CGH）鉴定出的微重复，该微重复包含五个相邻基因（OPHN1、YIPF6、STARD8、EFNB1和PJA1），且在一名患有先天性膈疝（CDH）的男性中为新发。我们的病例是第二例关于男性患者中与CDH相关的EFNB1重复的报告，支持其在膈肌发育中对基因剂量敏感的影响。
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