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• W2091236339 abstract "<h3>Background</h3> Cornelia de Lange syndrome (CdLS) is a well known malformation syndrome for which five causative genes are known, accounting for ∼55–65% of cases. In this study, we hypothesised that mosaicism might explain some of the ∼35–45% of cases without detectable mutation in DNA derived from lymphocytes; we investigated the frequency of <i>NIPBL</i> mutations in buccal cells in individuals negative for mutations in any of the five genes in lymphocytes; and we evaluated the efficiency of obtaining DNA from buccal swabs and the best strategy for optimal mutation detection in CdLS. <h3>Methods</h3> Buccal swabs were obtained from eight mutation positive and 13 mutation negative individuals with clinically diagnosed CdLS, following informed consent. We then forwarded instructions and a single mouth swab to the families; if subsequently insufficient DNA was obtained, we re-sent two mouth swabs. Buccal cells were screened for <i>NIPBL</i> mutations using Sanger sequencing techniques. <h3>Results</h3> Sufficient DNA for analysis was obtained in 21/22 individuals. In all six tested individuals with a known <i>NIPBL</i> mutation and in two with a known <i>SMC1A</i> mutation, the mutation was confirmed in buccal cells. In 10 of the 13 tested individuals without detectable mutation in lymphocytes a <i>NIPBL</i> mutation could be detected in buccal cells. Clinically there were no significant differences between patients with a germline and mosaic <i>NIPBL</i> mutation. <h3>Conclusions</h3> Somatic mosaicism for an <i>NIPBL</i> mutation is frequent (10/44; 23%) clinically in reliably diagnosed CdLS individuals. Obtaining buccal swabs at the time a blood sample is obtained will facilitate adequate molecular analysis of clinically diagnosed CdLS patients." @default.
• W2091236339 created "2016-06-24" @default.
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• W2091236339 date "2013-03-15" @default.
• W2091236339 modified "2023-10-07" @default.
• W2091236339 title "High rate of mosaicism in individuals with Cornelia de Lange syndrome" @default.
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• W2091236339 doi "https://doi.org/10.1136/jmedgenet-2012-101477" @default.
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