Skip to Main content Skip to Navigation
Journal articles

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.: MEF2C haploinsufficiency

Abstract : BACKGROUND: Over the last few years, array-comparative genomic hybridisation (CGH) has considerably improved our ability to detect cryptic unbalanced rearrangements in patients with syndromic mental retardation. METHOD: Molecular karyotyping of six patients with syndromic mental retardation was carried out using whole-genome oligonucleotide array-CGH. RESULTS: 5q14.3 microdeletions ranging from 216 kb to 8.8 Mb were detected in five unrelated patients with the following phenotypic similarities: severe mental retardation with absent speech, hypotonia and stereotypic movements. Facial dysmorphic features, epilepsy and/or cerebral malformations were also present in most of these patients. The minimal common deleted region of these 5q14 microdeletions encompassed only MEF2C, the gene for a protein known to act in brain as a neurogenesis effector, which regulates excitatory synapse number. In a patient with a similar phenotype, an MEF2C nonsense mutation was subsequently identified. CONCLUSION: Taken together, these results strongly suggest that haploinsufficiency of MEF2C is responsible for severe mental retardation with stereotypic movements, seizures and/or cerebral malformations.
Document type :
Journal articles
Complete list of metadatas

Cited literature [14 references]  Display  Hide  Download

https://www.hal.inserm.fr/inserm-00406331
Contributor : Hervé de Villemeur <>
Submitted on : Monday, August 24, 2009 - 6:01:24 PM
Last modification on : Wednesday, October 14, 2020 - 3:55:35 AM
Long-term archiving on: : Tuesday, June 15, 2010 - 8:57:02 PM

Files

inserm-00406331_edited.pdf
Files produced by the author(s)

Identifiers

Citation

Nathalie Le Meur, Muriel Holder-Espinasse, Sylvie Jaillard, Alice Goldenberg, Sylvie Joriot, et al.. MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.: MEF2C haploinsufficiency. Journal of Medical Genetics, BMJ Publishing Group, 2010, 47 (1), pp.22-9. ⟨10.1136/jmg.2009.069732⟩. ⟨inserm-00406331⟩

Share

Metrics

Record views

772

Files downloads

2199