Mid1/Mid2 expression in craniofacial development and a literature review of X-linked opitz syndrome.

ABSTRACT:

Background

Opitz syndrome (OS) is a genetic disorder that affects mainly the development of midline structures, including the craniofacial region, embryonic heart, and urogenital system. The manifestations of X-linked OS are believed to be results of a malfunctioned gene, MID1, whose product has been shown to have ubiquitin E3 ligase activity and regulate the turnover of microtubular protein phosphatase 2Ac. MID2, a homolog of MID1, shares high structural and functional similarities with MID1. Identification of a missense mutation in MID2 in an Indian family causing overlapping phenotypes with OS provided the first evidence that MID2 might be involved in similar pathogenesis.

Methods

The clinic features and the genetic findings of all reported X-linked OS were collectively s

SUBMITTER: Li B 

PROVIDER: S-EPMC4707030 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature