X-linked Cornelia De Lange Syndrome Owing to SMC1L1 Mutations

Nat Genet. 2006 May;38(5):528-30. doi: 10.1038/ng1779. Epub 2006 Apr 9.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Cycle Proteins / genetics*
  • Chromosomal Proteins, Non-Histone / genetics*
  • De Lange Syndrome / genetics*
  • Female
  • Genetic Diseases, X-Linked / genetics*
  • Humans
  • Male
  • Mutation*
  • Pedigree

Substances

  • Cell Cycle Proteins
  • Chromosomal Proteins, Non-Histone
  • structural maintenance of chromosome protein 1