Journal
CLINICAL GENETICS
Volume 78, Issue 5, Pages 471-477Publisher
WILEY
DOI: 10.1111/j.1399-0004.2010.01413.x
Keywords
aCGH; chromosome 5q14; 3; epilepsy; haploinsufficiency; MEF2C; microdeletion; severe mental retardation
Categories
Funding
- F.W.O. Vlaanderen
- Cassa di Risparmio delle Provincie Lombarde (CARIPLO) [2007.5197]
- Ministry of Health [RF-AOM-2007-636538]
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Recently, submicroscopic deletions of the 5q14.3 region have been described in patients with severe mental retardation (MR), stereotypic movements, epilepsy and cerebral malformations. Further delineation of a critical region of overlap in these patients pointed to MEF2C as the responsible gene. This finding was further reinforced by the identification of a nonsense mutation in a patient with a similar phenotype. In brain, MEF2C is essential for early neurogenesis, neuronal migration and differentiation. Here we present two additional patients with severe MR, autism spectrum disorder and epilepsy, carrying a very small deletion encompassing the MEF2C gene. This finding strengthens the role of this gene in severe MR, and enables further delineation of the clinical phenotype.
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