Document Detail

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.
MedLine Citation:
PMID:  17334363     Owner:  NLM     Status:  MEDLINE    
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.
Hiba Risheg; John M Graham; Robin D Clark; R Curtis Rogers; John M Opitz; John B Moeschler; Andreas P Peiffer; Melanie May; Sumy M Joseph; Julie R Jones; Roger E Stevenson; Charles E Schwartz; Michael J Friez
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2007-03-04
Journal Detail:
Title:  Nature genetics     Volume:  39     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  2007 Apr 
Date Detail:
Created Date:  2007-03-29     Completed Date:  2007-06-06     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  451-3     Citation Subset:  IM    
Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.
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MeSH Terms
Amino Acid Substitution / genetics
Arginine / genetics
Genetic Diseases, X-Linked / genetics*
Mediator Complex
Mental Retardation / genetics
Muscle Hypotonia / genetics
Receptors, Thyroid Hormone / genetics*
Tryptophan / genetics
Grant Support
Reg. No./Substance:
0/MED12 protein, human; 0/Mediator Complex; 0/Receptors, Thyroid Hormone; 73-22-3/Tryptophan; 74-79-3/Arginine

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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