@article{d7b1fcaae76c4591a4a3dd55e1cd3b89,
title = "A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome",
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.",
author = "Hiba Risheg and Graham, \{John M.\} and Clark, \{Robin D.\} and Rogers, \{R. Curtis\} and Opitz, \{John M.\} and Moeschler, \{John B.\} and Peiffer, \{Andreas P.\} and Melanie May and Joseph, \{Sumy M.\} and Jones, \{Julie R.\} and Stevenson, \{Roger E.\} and Schwartz, \{Charles E.\} and Friez, \{Michael J.\}",
note = "Funding Information: Foremost, we thank the members of all the families for their cooperation and willingness to participate in this research. We also thank E. Smith, J. Nilsson, B. Bearden and J. John at the Greenwood Genetic Center for their technical contributions. This work was supported, in part, by grant HD 26202 from the US National Institute of Child Health and Human Development (to C.E.S.) as well as support from the South Carolina Department of Disabilities and Special Needs. J.M.G. acknowledges support from SHARE{\textquoteright}s Childhood Disability Center, the Steven Spielberg Pediatric Research Center and the Cedars-Sinai Burns and Allen Research Institute. This article is dedicated to the memory of E.F. Schwartz (1996–1998).",
year = "2007",
month = apr,
doi = "10.1038/ng1992",
language = "English",
volume = "39",
pages = "451--453",
journal = "Nature Genetics",
issn = "1061-4036",
number = "4",
}