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• W2042298663 abstract "<h3>Background</h3> 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. <h3>Method</h3> Molecular karyotyping of six patients with syndromic mental retardation was carried out using whole-genome oligonucleotide array-CGH. <h3>Results</h3> 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 <i>MEF2C</i>, 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 <i>MEF2C</i> nonsense mutation was subsequently identified. <h3>Conclusion</h3> Taken together, these results strongly suggest that haploinsufficiency of <i>MEF2C</i> is responsible for severe mental retardation with stereotypic movements, seizures and/or cerebral malformations." @default.
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• W2042298663 date "2009-07-09" @default.
• W2042298663 modified "2023-10-16" @default.
• W2042298663 title "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" @default.
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• W2042298663 doi "https://doi.org/10.1136/jmg.2009.069732" @default.
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