{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T05:02:59Z","timestamp":1791435779398,"version":"4.3.3"},"reference-count":27,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2009,5,30]]},"published-print":{"date-parts":[[2010,1]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>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.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Method<\/jats:title>\n                  <jats:p>Molecular karyotyping of six patients with syndromic mental retardation was carried out using whole-genome oligonucleotide array-CGH.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>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 <jats:italic>MEF2C<\/jats:italic>, 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 <jats:italic>MEF2C<\/jats:italic> nonsense mutation was subsequently identified.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Taken together, these results strongly suggest that haploinsufficiency of <jats:italic>MEF2C<\/jats:italic> is responsible for severe mental retardation with stereotypic movements, seizures and\/or cerebral malformations.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2009.069732","type":"journal-article","created":{"date-parts":[[2009,7,10]],"date-time":"2009-07-10T20:13:26Z","timestamp":1247256806000},"page":"22-29","source":"Crossref","is-referenced-by-count":217,"title":["<i>MEF2C<\/i> 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 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