Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations

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• 作者：Paul D. Brady^a ; Jeroen Van Houdt^a ; Bert Callewaert^b ; Jan Deprest^c ; ^d ; Koenraad Devriendt^a ; Joris R. Vermeesch^a ;
• 关键词：Exome sequencing ; ZFPM2 ; Congenital diaphragmatic hernia ; CDH ; Diaphragm eventration
• 刊名：European Journal of Medical Genetics
• 出版年：May-June 2014
• 年：2014
• 卷：57
• 期：6
• 页码：247-252
• 全文大小：475 K

文摘

Using exome sequencing we identify a heterozygous nonsense mutation in ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia in 2 affected siblings. This mutation displays variable phenotypic expression being present in a third sibling with a mild diaphragmatic eventration and a cardiovascular malformation. The same variant is seen in 2 additional family members, both of whom are asymptomatic, thus highlighting that ZFPM2 haploinsufficiency is associated with reduced penetrance. Our finding adds further evidence for ZFPM2 having a role in diaphragm and cardiovascular development.