X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
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.
Musio
Antonio
A
Institute of Biomedical Technologies, Human Genome Department, Consiglio Nazionale delle Ricerche, Via Fratelli Cervi, 93, 20090 Segrate, Italy. antonio.musio@itb.cnr.it
Selicorni
Angelo
A
Focarelli
Maria Luisa
ML
Gervasini
Cristina
C
Milani
Donatella
D
Russo
Silvia
S
Vezzoni
Paolo
P
Larizza
Lidia
L
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
D018797:Cell Cycle Proteins; D002868:Chromosomal Proteins, Non-Histone; D000098550:Structural Maintenance of Chromosome Protein 1