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A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome).
- Source :
-
Clinical genetics [Clin Genet] 2011 Feb; Vol. 79 (2), pp. 183-8. - Publication Year :
- 2011
-
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.<br /> (© 2010 John Wiley & Sons A/S.)
- Subjects :
- Acrocallosal Syndrome genetics
Adolescent
Agenesis of Corpus Callosum
Amino Acid Sequence
Anus, Imperforate genetics
Constipation genetics
Humans
Infant
Male
Mental Retardation, X-Linked genetics
Molecular Sequence Data
Muscle Hypotonia congenital
Muscle Hypotonia genetics
Pedigree
Sequence Alignment
Mediator Complex genetics
Mutation
Subjects
Details
- Language :
- English
- ISSN :
- 1399-0004
- Volume :
- 79
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Clinical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 20507344
- Full Text :
- https://doi.org/10.1111/j.1399-0004.2010.01449.x