{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T11:50:11Z","timestamp":1787226611280,"version":"build-2736575974"},"reference-count":27,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2005,9]]},"abstract":"<jats:p>\n                  <jats:bold>Background:<\/jats:bold> Most cases of Sotos syndrome are caused by intragenic <jats:italic>NSD1<\/jats:italic> mutations or 5q35 microdeletions. It is uncertain whether allelic or genetic heterogeneity underlies the residual cases and it has been proposed that other mechanisms, such as 11p15 defects, might be responsible for Sotos cases without <jats:italic>NSD1<\/jats:italic> mutations or 5q35 microdeletions.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Objective:<\/jats:bold> To develop a multiplex ligation dependent probe amplification (MLPA) assay to screen <jats:italic>NSD1<\/jats:italic> for exonic deletions\/duplications.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Methods:<\/jats:bold> Analysis was undertaken of 18 classic Sotos syndrome cases in which <jats:italic>NSD1<\/jats:italic> mutations and 5q35 microdeletions were excluded. Long range polymerase chain reaction (PCR) was used to characterise the mechanism of generation of the partial <jats:italic>NSD1<\/jats:italic> deletions.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results:<\/jats:bold> Eight unique partial <jats:italic>NSD1<\/jats:italic> deletions were identified: exons 1\u20132 (n\u200a=\u200a4), exons 3\u20135, exons 9\u201313, exons 19\u201321, and exon 22. Using long range PCR six of the deletions were confirmed and the precise breakpoints in five cases characterised. This showed that three had arisen through <jats:italic>Alu<\/jats:italic>-<jats:italic>Alu<\/jats:italic> recombination and two from non-homologous end joining.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusions:<\/jats:bold> MLPA is a robust, inexpensive, simple technique that reliably detects both 5q35 microdeletions and partial <jats:italic>NSD1<\/jats:italic> deletions that together account for \u223c15% of Sotos syndrome.<\/jats:p>","DOI":"10.1136\/jmg.2005.031930","type":"journal-article","created":{"date-parts":[[2005,9,1]],"date-time":"2005-09-01T14:43:50Z","timestamp":1125585830000},"page":"e56-e56","source":"Crossref","is-referenced-by-count":37,"title":["Partial <i>NSD1<\/i> deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe 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