A MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndrome

作者：Ruiter Mariken^*; Kamsteeg Erik Jan; Meroni Germana; de Vries Bert B A

来源：Clinical Dysmorphology, 2010, 19(4): 195-197.

DOI：10.1097/MCD.0b013e32833dc5ee

• congenital abnormalities
• family studies
• MID1
• midline 1 (Opitz/BBB syndrome) protein human
• missense
• mutation
• reduced penetrance

The X-linked Opitz G/BBB syndrome (OS) is a congenital malformation disorder characterized by hypertelorism, swallowing difficulties, hypospadias, and additional midline malformations. Loss of function mutations in the MID1 gene at Xp22.3 are responsible for the X-linked form of OS. Various mutations are found all over the gene but without a clear genotype-phenotype correlation. We describe additional family studies of a previously reported boy with a relatively mild form of OS, caused by the unique p. Lys370Glu (c. 1108A>G) mutation in MID1. The same mutation was found in his clinically affected brother but also in the healthy maternal uncle. To our knowledge, this is the first report of a MID1 missense mutation causing non-penetrance in a male.

• 出版日期2010-10