title: A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome).
abstract: Opitz-Kaveggia syndrome is a rare X-linked multiple congenital anomalies and intellectual disability disorder caused by the recurrent p.R961W mutation in the MED12 gene. Twenty-three affected males from 10 families with this mutation in the MED12 gene have been described so far. Here we report on a new family with three affected cousins, in which we identified a novel MED12 mutation (p.G958E). This is the first demonstration that other mutations in this gene can also lead to Opitz-Kaveggia syndrome. The clinical phenotype of these three new cases is reviewed in detail and compared with the previous reported cases.
authors.affiliation: Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. p.rump@medgen.umcg.nl
authors.forename: P
authors.initials: P
authors.lastname: Rump
authors.forename: R C
authors.initials: RC
authors.lastname: Niessen
authors.forename: K T
authors.initials: KT
authors.lastname: Verbruggen
authors.forename: O F
authors.initials: OF
authors.lastname: Brouwer
authors.forename: M
authors.initials: M
authors.lastname: de Raad
authors.forename: R
authors.initials: R
authors.lastname: Hordijk
mesh_terms: D055673:Acrocallosal Syndrome / Q000235:genetics; D000293:Adolescent; D061085:Agenesis of Corpus Callosum; D000595:Amino Acid Sequence; D001006:Anus, Imperforate / Q000235:genetics; D003248:Constipation / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D056892:Mediator Complex / Q000235:genetics*; D038901:X-Linked Intellectual Disability / Q000235:genetics; D008969:Molecular Sequence Data; D009123:Muscle Hypotonia / Q000151:congenital / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D016415:Sequence Alignment
chemical_list: C460107:MED12 protein, human; D056892:Mediator Complex