A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome)
Copyright policy )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.
- University Medical Center Groningen Netherlands
- University Medical Center Groningen Netherlands
- Boston Children's Hospital United States
- University of Groningen Netherlands
R961W, Male, Adolescent, Acrocallosal Syndrome, HUMAN CDK8 SUBCOMPLEX, Molecular Sequence Data, p, Kaveggia syndrome, Anus, Imperforate, MISSENSE MUTATION, multiple congenital anomalies, X-Linked Intellectual Disability, FG syndrome, Humans, MEDIATOR, Amino Acid Sequence, Opitz, Mediator Complex, Infant, GENE, MED12, FAMILY, Pedigree, X-linked mental retardation, G958E, Mutation, Muscle Hypotonia, Agenesis of Corpus Callosum, Constipation, Sequence Alignment, MENTAL-RETARDATION
R961W, Male, Adolescent, Acrocallosal Syndrome, HUMAN CDK8 SUBCOMPLEX, Molecular Sequence Data, p, Kaveggia syndrome, Anus, Imperforate, MISSENSE MUTATION, multiple congenital anomalies, X-Linked Intellectual Disability, FG syndrome, Humans, MEDIATOR, Amino Acid Sequence, Opitz, Mediator Complex, Infant, GENE, MED12, FAMILY, Pedigree, X-linked mental retardation, G958E, Mutation, Muscle Hypotonia, Agenesis of Corpus Callosum, Constipation, Sequence Alignment, MENTAL-RETARDATION
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