title: X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
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.
authors.affiliation: Institute of Biomedical Technologies, Human Genome Department, Consiglio Nazionale delle Ricerche, Via Fratelli Cervi, 93, 20090 Segrate, Italy. antonio.musio@itb.cnr.it
authors.forename: Antonio
authors.initials: A
authors.lastname: Musio
authors.forename: Angelo
authors.initials: A
authors.lastname: Selicorni
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Focarelli
authors.forename: Cristina
authors.initials: C
authors.lastname: Gervasini
authors.forename: Donatella
authors.initials: D
authors.lastname: Milani
authors.forename: Silvia
authors.initials: S
authors.lastname: Russo
authors.forename: Paolo
authors.initials: P
authors.lastname: Vezzoni
authors.forename: Lidia
authors.initials: L
authors.lastname: Larizza
mesh_terms: D018797:Cell Cycle Proteins / Q000235:genetics*; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D003635:De Lange Syndrome / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D000098550:Structural Maintenance of Chromosome Protein 1
chemical_list: D018797:Cell Cycle Proteins; D002868:Chromosomal Proteins, Non-Histone; D000098550:Structural Maintenance of Chromosome Protein 1