A MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndrome.
CLINICAL DYSMORPHOLOGY(2010)
摘要
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. Clin Dysmorphol 19: 195-197 (C) 2010 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.
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关键词
congenital abnormalities,family studies,MID1,midline 1 (Opitz/BBB syndrome) protein human,missense,mutation,reduced penetrance
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