Abstract
Cornelia de Lange syndrome is a multisystem developmental disorder characterized by facial dysmorphisms, upper limb abnormalities, growth delay and cognitive retardation. Mutations in the NIPBL gene, a component of the cohesin complex, account for approximately half of the affected individuals. We report here that mutations in SMC1L1 (also known as SMC1), which encodes a different subunit of the cohesin complex, are responsible for CdLS in three male members of an affected family and in one sporadic case.
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Acknowledgements
We thank R. Dulbecco for his encouragement. We thank the individuals with CdLS and their families for their willingness to donate samples. We would like to thank the Associazione Italiana di Volontariato Sindrome di Cornelia de Lange and the Mariani Foundation for their support and collaboration. We thank L. Susani for technical assistance. This work was supported by grants from the Fondo per gli Investimenti della Ricerca di Base to A.M. (RBNE01RNN7) and to P.V. (RBNE019J9W), a Eurostell grant to P.V. and grant 526/A27 from the Istituto Superiore di Sanità 'Rare Diseases' Project to L.L (Istituto Auxologico Italiano). We acknowledge COST ACTION B19 for fostering this cooperation during the Fragilome Meeting (Heidelberg, 21 February 2005). This work is related to the N.O.B.E.L. Project funded by Fondazione Cassa di Risparmio delle Provincie Lombarde to P.V.
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Supplementary information
Supplementary Table 1
Facial dysmorphisms and minor limb anomalies of CdLS patients with mutated SMC1. (PDF 123 kb)
Supplementary Table 2
Auxologic data and developmental anomalies of CdLS patients with mutated SMC1. (PDF 116 kb)
Supplementary Table 3
Primers used to amplify SMC1 coding sequence. (PDF 85 kb)
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Musio, A., Selicorni, A., Focarelli, M. et al. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet 38, 528–530 (2006). https://doi.org/10.1038/ng1779
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DOI: https://doi.org/10.1038/ng1779
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