A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome).
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.
Rump
P
P
Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. p.rump@medgen.umcg.nl
Niessen
R C
RC
Verbruggen
K T
KT
Brouwer
O F
OF
de Raad
M
M
Hordijk
R
R
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
C460107:MED12 protein, human; D056892:Mediator Complex