Brady Paul D, Van Houdt Jeroen, Callewaert Bert, Deprest Jan, Devriendt Koenraad, Vermeesch Joris R
Centre for Human Genetics, KU Leuven, University Hospital Leuven, Belgium.
Department of Pediatrics and Medical Genetics, Universiteit Gent, Gent, Belgium.
Eur J Med Genet. 2014 May-Jun;57(6):247-52. doi: 10.1016/j.ejmg.2014.04.006. Epub 2014 Apr 24.
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.
通过外显子组测序，我们在两名患病同胞中鉴定出ZFPM2基因的一个杂合无义突变，该突变是家族性孤立性先天性膈疝的病因。这种突变表现出可变的表型表达，在第三名同胞中也存在，该同胞有轻度膈膨出和心血管畸形。另外两名家庭成员也存在相同变异，他们均无症状，这突出表明ZFPM2单倍体不足与外显率降低有关。我们的发现进一步证明了ZFPM2在膈肌和心血管发育中发挥作用。
