title: Refining the phenotype associated with MEF2C haploinsufficiency.
abstract: 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.
authors.affiliation: Genetica Medica, Università di Pavia, Pavia, 27100 PV, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Novara
authors.forename: S
authors.initials: S
authors.lastname: Beri
authors.forename: R
authors.initials: R
authors.lastname: Giorda
authors.forename: E
authors.initials: E
authors.lastname: Ortibus
authors.forename: S
authors.initials: S
authors.lastname: Nageshappa
authors.forename: F
authors.initials: F
authors.lastname: Darra
authors.forename: B
authors.initials: B
authors.lastname: Dalla Bernardina
authors.forename: O
authors.initials: O
authors.lastname: Zuffardi
authors.forename: H
authors.initials: H
authors.lastname: Van Esch
mesh_terms: D000293:Adolescent; D002659:Child Development Disorders, Pervasive / Q000235:genetics; D002675:Child, Preschool; D004831:Epilepsies, Myoclonic / Q000235:genetics; D057895:Haploinsufficiency; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D026161:MADS Domain Proteins / Q000235:genetics*; D064326:MEF2 Transcription Factors; D008297:Male; D018006:Myogenic Regulatory Factors / Q000235:genetics*; D010641:Phenotype; D017384:Sequence Deletion
chemical_list: D026161:MADS Domain Proteins; D064326:MEF2 Transcription Factors; C578040:MEF2C protein, human; D018006:Myogenic Regulatory Factors