{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T13:00:26Z","timestamp":1791896426897,"version":"4.3.4"},"reference-count":59,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2003,8]]},"abstract":"<jats:p>\n                    <jats:bold>Methods<\/jats:bold>\n                    : The 22q13 deletion syndrome (MIM 606232) is characterised by moderate to profound mental retardation, delay\/absence of expressive speech, hypotonia, normal to accelerated growth, and mild dysmorphic features. We have determined the deletion size and parent of origin in 56 patients with this syndrome.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Results:<\/jats:bold>\n                    Similar to other terminal deletion syndromes, there was an overabundance of paternal deletions. The deletions vary widely in size, from 130 kb to over 9 Mb; however all 45 cases that could be specifically tested for the terminal region at the site of\n                    <jats:italic>SHANK3<\/jats:italic>\n                    were deleted for this gene. The molecular structure of\n                    <jats:italic>SHANK3<\/jats:italic>\n                    was further characterised. Comparison of clinical features to deletion size showed few correlations. Some measures of developmental assessment did correlate to deletion size; however, all patients showed some degree of mental retardation and severe delay or absence of expressive speech, regardless of deletion size.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Conclusion<\/jats:bold>\n                    : Our analysis therefore supports haploinsufficiency of the gene\n                    <jats:italic>SHANK3<\/jats:italic>\n                    , which codes for a structural protein of the postsynaptic density, as a major causative factor in the neurological symptoms of 22q13 deletion syndrome.\n                  <\/jats:p>","DOI":"10.1136\/jmg.40.8.575","type":"journal-article","created":{"date-parts":[[2003,8,14]],"date-time":"2003-08-14T19:58:47Z","timestamp":1060891127000},"page":"575-584","source":"Crossref","is-referenced-by-count":330,"title":["Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of\n                    <i>SHANK3\/PROSAP2<\/i>\n                    in the major neurological symptoms"],"prefix":"10.1136","volume":"40","author":[{"given":"H L","family":"Wilson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A C C","family":"Wong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S R","family":"Shaw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W-Y","family":"Tse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G A","family":"Stapleton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M 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