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.
J Med Genet
; 47(1): 22-9, 2010 Jan.
Article
en En
| MEDLINE
| ID: mdl-19592390
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 5
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Deleción Cromosómica
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Factores Reguladores Miogénicos
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Trastorno de Movimiento Estereotipado
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Proteínas de Dominio MADS
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Epilepsia
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Cerebro
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Discapacidad Intelectual
Tipo de estudio:
Prognostic_studies
Límite:
Child
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Child, preschool
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Humans
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Infant
Idioma:
En
Revista:
J Med Genet
Año:
2010
Tipo del documento:
Article
País de afiliación:
Francia
Pais de publicación:
Reino Unido