X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

Antonio Musio, Angelo Selicorni, Maria Luisa Focarelli, Cristina Gervasini, Donatella Milani, Silvia Russo, Paolo Vezzoni, Lidia Larizza

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)528-530
Number of pages3
JournalNature Genetics
Volume38
Issue number5
DOIs
Publication statusPublished - May 2006

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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