{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T05:13:20Z","timestamp":1791350000314,"version":"4.3.1"},"reference-count":18,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2009,9]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      The 9q subtelomeric deletion syndrome (9qSTDS) is clinically characterised by moderate to severe mental retardation, childhood hypotonia and facial dysmorphisms. In addition, congenital heart defects, urogenital defects, epilepsy and behavioural problems are frequently observed. The syndrome can be either caused by a submicroscopic 9q34.3 deletion or by intragenic\n                      <jats:italic>EHMT1<\/jats:italic>\n                      mutations leading to haploinsufficiency of the\n                      <jats:italic>EHMT1<\/jats:italic>\n                      gene. So far it has not been established if and to what extent other genes in the 9q34.3 region contribute to the phenotype observed in deletion cases. This study reports the largest cohort of 9qSTDS cases so far.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and results:<\/jats:title>\n                    <jats:p>\n                      By a multiplex ligation dependent probe amplification (MLPA) approach, the authors identified and characterised 16 novel submicroscopic 9q deletions. Direct sequence analysis of the\n                      <jats:italic>EHMT1<\/jats:italic>\n                      gene in 24 patients exhibiting the 9qSTD phenotype without such deletion identified six patients with an intragenic\n                      <jats:italic>EHMT1<\/jats:italic>\n                      mutation. Five of these mutations predict a premature termination codon whereas one mutation gives rise to an amino acid substitution in a conserved domain of the protein.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>\n                      The data do not provide any evidence for phenotype\u2013genotype correlations between size of the deletions or type of mutations and severity of clinical features. Therefore, the authors confirm the\n                      <jats:italic>EHMT1<\/jats:italic>\n                      gene to be the major determinant of the 9qSTDS phenotype. Interestingly, five of six patients who had reached adulthood had developed severe psychiatric pathology, which may indicate that\n                      <jats:italic>EHMT1<\/jats:italic>\n                      haploinsufficiency is associated with neurodegeneration in addition to neurodevelopmental defect.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jmg.2008.062950","type":"journal-article","created":{"date-parts":[[2009,3,5]],"date-time":"2009-03-05T23:37:19Z","timestamp":1236296239000},"page":"598-606","source":"Crossref","is-referenced-by-count":207,"title":["Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of\n                    <i>EHMT1<\/i>\n                    haploinsufficiency to the core phenotype"],"prefix":"10.1136","volume":"46","author":[{"given":"T","family":"Kleefstra","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W 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