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.
authors.affiliation: Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.
authors.forename: Hiba
authors.initials: H
authors.lastname: Risheg
authors.forename: John M
authors.initials: JM
authors.lastname: Graham
authors.forename: Robin D
authors.initials: RD
authors.lastname: Clark
authors.forename: R Curtis
authors.initials: RC
authors.lastname: Rogers
authors.forename: John M
authors.initials: JM
authors.lastname: Opitz
authors.forename: John B
authors.initials: JB
authors.lastname: Moeschler
authors.forename: Andreas P
authors.initials: AP
authors.lastname: Peiffer
authors.forename: Melanie
authors.initials: M
authors.lastname: May
authors.forename: Sumy M
authors.initials: SM
authors.lastname: Joseph
authors.forename: Julie R
authors.initials: JR
authors.lastname: Jones
authors.forename: Roger E
authors.initials: RE
authors.lastname: Stevenson
authors.forename: Charles E
authors.initials: CE
authors.lastname: Schwartz
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Friez
mesh_terms: 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
chemical_list: C460107:MED12 protein, human; D056892:Mediator Complex; D011988:Receptors, Thyroid Hormone; D014364:Tryptophan; D001120:Arginine