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EnglishThe 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.
| Titolo: | A MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndrome | |
| Autori: | ||
| Data di pubblicazione: | 2010 | |
| Rivista: | ||
| Abstract: | 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. | |
| Handle: | http://hdl.handle.net/11368/2847680 | |
| Digital Object Identifier (DOI): | http://dx.doi.org/10.1097/MCD.0b013e32833dc5ee | |
| URL: | http://dx.medra.org/10.1097/MCD.0b013e32833dc5ee | |
| Appare nelle tipologie: | 1.1 Articolo in Rivista |