{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,25]],"date-time":"2026-10-25T00:52:32Z","timestamp":1792889552062,"version":"4.5.0"},"reference-count":23,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2007,8]]},"abstract":"<jats:p>\n                    <jats:bold>Background:<\/jats:bold>\n                    Smith-Magenis syndrome (SMS) is rare (prevalence 1 in 25 000) and is associated with psychomotor delay, a particular behavioural pattern and congenital anomalies. SMS is often due to a chromosomal deletion of &lt;4 Mb at the 17p11.2 locus, leading to haploinsufficiency of numerous genes. Mutations of one of these gemes,\n                    <jats:italic>RAI1<\/jats:italic>\n                    , seems to be responsible for the main features found with heterozygous 17p11.2 deletions.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Methods:<\/jats:bold>\n                    We studied DNA from 30 patients with SMS using a 300 bp amplimers comparative genome hybridisation array encompassing 75 loci from a 22 Mb section from the short arm of chromosome 17.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Results:<\/jats:bold>\n                    Three patients had large deletions (10%). Genotype\u2013phenotype correlation showed that two of them had cleft palate, which was not found in any of the other patients with SMS (p&lt;0.007, Fisher\u2019s exact test). The smallest extra-deleted region associated with cleft palate in SMS is 1.4 Mb, contains &lt;16 genes and is located at 17p11.2-17p12. Gene expression array data showed that the ubiquitin B precursor (\n                    <jats:italic>UBB<\/jats:italic>\n                    ) is significantly expressed in the first branchial arch in the fourth and fifth weeks of human development.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Conclusion:<\/jats:bold>\n                    These data support\n                    <jats:italic>UBB<\/jats:italic>\n                    as a good candidate gene for isolated cleft palate.\n                  <\/jats:p>","DOI":"10.1136\/jmg.2006.048736","type":"journal-article","created":{"date-parts":[[2007,4,27]],"date-time":"2007-04-27T20:48:12Z","timestamp":1177706892000},"page":"537-540","source":"Crossref","is-referenced-by-count":15,"title":["Genotype\u2013phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger 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