Nature Genetics
- 38, 528 - 530 (2006)
Published online: 9 April 2006; | doi:10.1038/ng1779
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutationsAntonio Musio1, Angelo Selicorni2, Maria Luisa Focarelli1, Cristina Gervasini3, Donatella Milani2, Silvia Russo4, Paolo Vezzoni1 & Lidia Larizza3, 41
Institute of Biomedical Technologies, Human Genome Department, Consiglio Nazionale delle Ricerche, Via Fratelli Cervi, 93, 20090 Segrate, Italy. 2
I Clinica Pediatrica, Università degli Studi di Milano, Fondazione Policlinico, Via della Commenda, 9, 20122 Milan, Italy. 3
Division of Medical Genetics, San Paolo School of Medicine, University of Milan, Via A. di Rudinì, 8, 20142 Milan, Italy. 4
Laboratory of Molecular Genetics, Istituto Auxologico Italiano, via Zucchi 18, 20095 Milan, Italy.
Correspondence should be addressed to Antonio Musio antonio.musio@itb.cnr.it 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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