Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia

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• 作者：Florence Petit^a ; ^{florence.petit@chru-lille.fr"" rel=""nofollow} ; Joris Andrieux^b ; Muriel Holder-Espinasse^a ; Sonia Bouquillon^b ; Thomas Pennaforte^c ; Laurent Storme^c ; Sylvie Manouvrier-Hanu^a
• 关键词：Congenital diaphragmatic hernia ; EFNB1 ; Craniofrontonasal syndrome ; OPHN1
• 刊名：European Journal of Medical Genetics
• 出版年：2011
• 出版时间：September-October 2011
• 年：2011
• 卷：54
• 期：5
• 页码：e525-e527
• 全文大小：350 K

文摘

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.