A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome).
Clin Genet
; 79(2): 183-8, 2011 Feb.
Article
in En
| MEDLINE
| ID: mdl-20507344
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Mediator Complex
/
Mutation
Type of study:
Etiology_studies
/
Prognostic_studies
Limits:
Adolescent
/
Humans
/
Infant
/
Male
Language:
En
Journal:
Clin Genet
Year:
2011
Type:
Article
Affiliation country:
Netherlands