title: Partial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: review of the literature.
abstract: Deletions or intragenic mutations involving the MEF2C gene on chromosome 5q14.3 have generally been associated with a relatively uniform phenotype characterized by severe developmental delay, absent speech, stereotypies, absent or limited gait abilities, lack of a typical facial gestalt and scarcity of major malformations. We report on a patient of Cypriot descent with a de novo, approximately 147 kb in size, partial MEF2C deletion removing exons 1 to 3. He had a history of severe intellectual disability with absent speech, poor eye contact, hand stereotypies and a wide-based gait. A broad-based, shallow jugular pit with an overlying vascular malformation was also present. Partial MEF2C deletions have only been reported in a very small number of patients and have on occasion been associated with relatively milder phenotypes. We present a patient of Cypriot descent with such a deletion and review previously published literature on partial MEF2C gene deletions postulating a key role of the first few exons in the pathogenesis of the disease.
authors.affiliation: Clinical Genetics Department, The Cyprus Institute of Neurology and Genetics & Archbishop Makarios III Medical Centre, Nicosia, Cyprus.
authors.forename: George A
authors.initials: GA
authors.lastname: Tanteles
authors.forename: Angelos
authors.initials: A
authors.lastname: Alexandrou
authors.forename: Paola
authors.initials: P
authors.lastname: Evangelidou
authors.forename: Marina
authors.initials: M
authors.lastname: Gavatha
authors.forename: Violetta
authors.initials: V
authors.lastname: Anastasiadou
authors.forename: Carolina
authors.initials: C
authors.lastname: Sismani
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D000293:Adolescent; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D055028:Comparative Genomic Hybridization; D019066:Facies; D017353:Gene Deletion; D056726:Genetic Association Studies; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D064326:MEF2 Transcription Factors / Q000235:genetics*; D008297:Male; D010641:Phenotype; D035781:Siblings
chemical_list: D064326:MEF2 Transcription Factors
keywords: Cyprus; MEF2C; array-CGH; intellectual disability; partial deletion