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Title: Refining the phenotype associated with MEF2C haploinsufficiency
Authors: Novara, F ×
Beri, S
Giorda, R
Ortibus, Els
Nageshappa, Savitha
Darra, F
Bernardina, B Dalla
Zuffardi, O
Van Esch, Hilde #
Issue Date: Nov-2010
Publisher: Munksgaard
Series Title: Clinical genetics vol:78 issue:5 pages:471-477
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.
URI: 
ISSN: 0009-9163
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory for Genetics of Cognition
Department of Human Genetics - miscellaneous
Section Child - Miscellaneous (-)
× corresponding author
# (joint) last author

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