A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.
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.
Risheg
Hiba
H
Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.
Graham
John M
JM
Clark
Robin D
RD
Rogers
R Curtis
RC
Opitz
John M
JM
Moeschler
John B
JB
Peiffer
Andreas P
AP
May
Melanie
M
Joseph
Sumy M
SM
Jones
Julie R
JR
Stevenson
Roger E
RE
Schwartz
Charles E
CE
Friez
Michael J
MJ
D019943:Amino Acid Substitution / Q000235:genetics; D001120:Arginine / Q000235:genetics; D005190:Family; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D056892:Mediator Complex; D009123:Muscle Hypotonia / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D011988:Receptors, Thyroid Hormone / Q000235:genetics*; D013577:Syndrome; D014364:Tryptophan / Q000235:genetics
C460107:MED12 protein, human; D056892:Mediator Complex; D011988:Receptors, Thyroid Hormone; D014364:Tryptophan; D001120:Arginine