期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 57, 期 6, 页码 247-252出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2014.04.006
关键词
Exome sequencing; ZFPM2; Congenital diaphragmatic hernia; CDH; Diaphragm eventration
资金
- Research Foundation Flanders (FWO) [FWO] [G.0320.07.]
- Fonds voor Wetenschappelijk Onderzoek Vlaanderen (FWO) [1.8.012.07.N.02]
- Instituut voor Wetenschap en Technologie [IWT/070715]
- European Commission [PIAP-GA-2009-251356]
- Belgian Science Policy Office Interuniversity Attraction Poles (BELSPO-IAP) programme [IAP P7/43-BeMGI]
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. (C) 2014 Published by Elsevier Masson SAS.
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