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- Title
Refining the phenotype associated with MEF2C haploinsufficiency.
- Authors
Novara, F.; Beri, S.; Giorda, R.; Ortibus, E.; Nageshappa, S.; Darra, F.; dalla Bernardina, B.; Zuffardi, O.; Van Esch, H.
- Abstract
Novara F, Beri S, Giorda R, Ortibus E, Nageshappa S, Darra F, dalla Bernardina B, Zuffardi O, Van Esch H. Refining the phenotype associated with MEF2C haploinsufficiency. 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.
- Subjects
PHENOTYPES; MEDICAL genetics; INTELLECTUAL disabilities; PEOPLE with epilepsy; BRAIN abnormalities; DEVELOPMENTAL neurobiology; PATIENTS
- Publication
Clinical Genetics, 2010, Vol 78, Issue 5, p471
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/j.1399-0004.2010.01413.x