RGD Reference Report - A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. - Rat Genome Database

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A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.

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 
Citation: Risheg H, etal., Nat Genet. 2007 Apr;39(4):451-3. Epub 2007 Mar 4.
RGD ID: 12910952
Pubmed: PMID:17334363   (View Abstract at PubMed)
DOI: DOI:10.1038/ng1992   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
FG syndrome  IAGP 12910952DNA:missense mutation:cds:2881C>T(p.R961W)(human)RGD 
FG syndrome  ISOMED12 (Homo sapiens)12910952; 12910952DNA:missense mutation:cds:2881C>T(p.R961W)(human)RGD 
X-Linked Intellectual Developmental Disorders  IAGP 12910952DNA:missense mutation:cds:2881C>T(p.R961W)(human)RGD 
X-Linked Intellectual Developmental Disorders  ISOMED12 (Homo sapiens)12910952; 12910952DNA:missense mutation:cds:2881C>T(p.R961W)(human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Macrocephaly  IAGP 12910952associated with Opitz-Kaveggia Syndrome and DNA:missense mutation:cds:2881C>T(p.R961W)(human)RGD 
Prominent forehead  IAGP 12910952associated with Opitz-Kaveggia Syndrome and DNA:missense mutation:cds:2881C>T(p.R961W)(human)RGD 
Relative macrocephaly  IAGP 12910952associated with Opitz-Kaveggia Syndrome and DNA:missense mutation:cds:2881C>T(p.R961W)(human)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Med12  (mediator complex subunit 12)

Genes (Mus musculus)
Med12  (mediator complex subunit 12)

Genes (Homo sapiens)
MED12  (mediator complex subunit 12)


Additional Information