Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.

ABSTRACT: Carpenter syndrome is an autosomal-recessive multiple-congenital-malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet; many other clinical features occur, and the most frequent include obesity, umbilical hernia, cryptorchidism, and congenital heart disease. Mutations of RAB23, encoding a small GTPase that regulates vesicular transport, are present in the majority of cases. Here, we describe a disorder caused by mutations in multiple epidermal-growth-factor-like-domains 8 (MEGF8), which exhibits substantial clinical overlap with Carpenter syndrome but is frequently associated with abnormal left-right patterning. We describe five affected individuals with similar dysmorphic facies, and three of them had either complete situs inversus, d

SUBMITTER: Twigg SR 

PROVIDER: S-EPMC3487118 | biostudies-literature | 2012 Nov

REPOSITORIES: biostudies-literature