{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T01:34:31Z","timestamp":1789868071729,"version":"4.0.1"},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,2,3]],"date-time":"2016-02-03T00:00:00Z","timestamp":1454457600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,5]]},"abstract":"<jats:p>Cornelia de Lange syndrome is a multisystemic developmental disorder mainly related to <jats:italic>de novo<\/jats:italic> heterozygous <jats:italic>NIPBL<\/jats:italic> mutation. Recently, <jats:italic><jats:styled-content style=\"fixed-case\">NIPBL<\/jats:styled-content><\/jats:italic> somatic mosaicism has been highlighted through buccal cell <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> study in some patients with a negative molecular analysis on leukocyte <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>. Here, we present a series of 38 patients with a Cornelia de Lange syndrome related to a heterozygous <jats:italic><jats:styled-content style=\"fixed-case\">NIPBL<\/jats:styled-content><\/jats:italic> mutation identified by Sanger sequencing. The diagnosis was based on the following criteria: (i) intrauterine growth retardation and postnatal short stature, (ii) feeding difficulties and\/or gastro\u2010oesophageal reflux, (iii) microcephaly, (iv) intellectual disability, and (v) characteristic facial features. We identified 37 novel <jats:italic><jats:styled-content style=\"fixed-case\">NIPBL<\/jats:styled-content><\/jats:italic> mutations including 34 in leukocytes and 3 in buccal cells only. All mutations shown to have arisen <jats:italic>de novo<\/jats:italic> when parent blood samples were available. The present series confirms the difficulty in predicting the phenotype according to the <jats:italic><jats:styled-content style=\"fixed-case\">NIPBL<\/jats:styled-content><\/jats:italic> mutation. Until now, somatic mosaicism has been observed for 20 cases which do not seem to be consistently associated with a milder phenotype. Besides, several reports support a postzygotic event for those cases. Considering these elements, we recommend a first\u2010line buccal cell <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> analysis in order to improve gene testing sensitivity in Cornelia de Lange syndrome and genetic counselling.<\/jats:p>","DOI":"10.1111\/cge.12720","type":"journal-article","created":{"date-parts":[[2015,12,24]],"date-time":"2015-12-24T09:56:47Z","timestamp":1450951007000},"page":"584-589","source":"Crossref","is-referenced-by-count":27,"title":["A series of 38 novel germline and somatic mutations of <i><scp>NIPBL<\/scp><\/i> in Cornelia de Lange syndrome"],"prefix":"10.1111","volume":"89","author":[{"given":"M.","family":"Nizon","sequence":"first","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique Universit\u00e9 Paris Descartes\u2010Sorbonne Paris Cit\u00e9, INSERM UMR1163, Institut IMAGINE, H\u00f4pital Necker\u2010Enfants Malades  Paris 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