SMC1A codon 496 mutations affect the cellular response to genotoxic treatments
L Mannini, S Menga, A Tonelli, S Zanotti… - American Journal of …, 2012 - Wiley Online Library
L Mannini, S Menga, A Tonelli, S Zanotti, MT Bassi, C Magnani, A Musio
American Journal of Medical Genetics Part A, 2012•Wiley Online LibraryCornelia de Lange syndrome is a pleiotropic developmental syndrome characterized by
growth and cognitive impairment, facial dysmorphic features, limb anomalies, and other
malformations. Mutations in core cohesin genes SMC1A and SMC3, and the cohesin
regulatory gene, NIPBL, have been identified in Cornelia de Lange syndrome probands.
Patients with NIPBL mutations have more severe phenotypes when compared to those with
mutations in SMC1A or SMC3. To date, 26 distinct SMC1A mutations have been identified in …
growth and cognitive impairment, facial dysmorphic features, limb anomalies, and other
malformations. Mutations in core cohesin genes SMC1A and SMC3, and the cohesin
regulatory gene, NIPBL, have been identified in Cornelia de Lange syndrome probands.
Patients with NIPBL mutations have more severe phenotypes when compared to those with
mutations in SMC1A or SMC3. To date, 26 distinct SMC1A mutations have been identified in …
Abstract
Cornelia de Lange syndrome is a pleiotropic developmental syndrome characterized by growth and cognitive impairment, facial dysmorphic features, limb anomalies, and other malformations. Mutations in core cohesin genes SMC1A and SMC3, and the cohesin regulatory gene, NIPBL, have been identified in Cornelia de Lange syndrome probands. Patients with NIPBL mutations have more severe phenotypes when compared to those with mutations in SMC1A or SMC3. To date, 26 distinct SMC1A mutations have been identified in patients with Cornelia de Lange syndrome. Here, we describe a 3‐year‐old girl with psychomotor and cognitive impairment, mild facial dysmorphic features but no limb anomaly, heterozygous for a c.1487G>A mutation in SMC1A which predicts p.Arg496His. We show that this mutation leads to an impairment of the cellular response to genotoxic treatments. © 2011 Wiley Periodicals, Inc.