{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T06:13:50Z","timestamp":1790403230517,"version":"4.1.0"},"reference-count":36,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2010,3,23]],"date-time":"2010-03-23T00:00:00Z","timestamp":1269302400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2010,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    We present four patients, in whom we identified overlapping deletions in 5q14.3 involving\n                    <jats:italic>MEF2C<\/jats:italic>\n                    using a clinical oligonucleotide array comparative genomic hybridization (CGH) chromosomal microarray analysis (CMA). In case 1, CMA revealed an \u223c140\u2009kb deletion encompassing the first three exons of\n                    <jats:italic>MEF2C<\/jats:italic>\n                    in a 3\u2010year\u2010old patient with severe psychomotor retardation, periodic tremor, and an abnormal motor pattern with mirror movement of the upper limbs observed during infancy, hypotonia, abnormal EEG, epilepsy, absence of speech, autistic behavior, bruxism, and mild dysmorphic features. MRI of the brain showed mild thinning of the corpus callosum and delay of white matter myelination in the occipital lobes. In case 2, an \u223c1.8\u2009Mb deletion of\n                    <jats:italic>TMEM161B<\/jats:italic>\n                    and\n                    <jats:italic>MEF2C<\/jats:italic>\n                    was found in a child with severe developmental delay, hypotonia, and seizures. Patient 3 had epilepsy, hypotonia, thinning of the corpus callosum, and developmental delay associated with a de novo \u223c2.4\u2009Mb deletion in 5q14.3 including\n                    <jats:italic>MEF2C<\/jats:italic>\n                    and five other genes. In case 4, a de novo \u223c5.7\u2009Mb deletion of\n                    <jats:italic>MEF2C<\/jats:italic>\n                    and five other genes was found in a child with truncal hypotonia, intractable seizures, profound developmental delay, and shortening of the corpus callosum on brain MRI. These deletions further support that haploinsufficiency of\n                    <jats:italic>MEF2C<\/jats:italic>\n                    is responsible for severe mental retardation, seizures, and hypotonia. Our results, in combination with previous reports, imply that exon\u2010targeted oligo array CGH, which is more efficient in identifying exonic copy number variants, should improve the detection of clinically significant deletions and duplications over arrays with probes spaced evenly throughout the genome. \u00a9 2010 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.b.31071","type":"journal-article","created":{"date-parts":[[2010,3,23]],"date-time":"2010-03-23T11:29:42Z","timestamp":1269343782000},"page":"1042-1051","source":"Crossref","is-referenced-by-count":87,"title":["Severe mental retardation, seizures, and hypotonia due to deletions of\n                    <i>MEF2C<\/i>"],"prefix":"10.1002","volume":"153B","author":[{"given":"Beata A.","family":"Nowakowska","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ewa","family":"Obersztyn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krystyna","family":"Szyma\u0144ska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Bekiesi\u0144ska\u2010Figatowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhilian","family":"Xia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian B.","family":"Ricks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ewa","family":"Bocian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David 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