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A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome |
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| Authors: | Risheg Hiba Graham John M Clark Robin D Rogers R Curtis Opitz John M Moeschler John B Peiffer Andreas P May Melanie Joseph Sumy M Jones Julie R Stevenson Roger E Schwartz Charles E Friez Michael J |
| Affiliation: | Greenwood Genetic Center, Greenwood, South Carolina 29646, USA. |
| Abstract: | Opitz-Kaveggia syndrome (also known as FG syndrome) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. We report here that the original family for whom the condition is named and five other families have a recurrent mutation (2881C>T, leading to R961W) in MED12 (also called TRAP230 or HOPA), a gene located at Xq13 that functions as a thyroid receptor-associated protein in the Mediator complex. |
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