How to Cite this Article: Mannini L, Menga S, Tonelli A, Zanotti S, Bassi MT, Magnani C, Musio A. 2012. SMC1A codon 496 mutations affect the cellular response to genotoxic treatments. Am J Med Genet Part A 158A:224–228.
SMC1A codon 496 mutations affect the cellular response to genotoxic treatments†
Article first published online: 2 DEC 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 1, pages 224–228, January 2012
How to Cite
Mannini, L., Menga, S., Tonelli, A., Zanotti, S., Bassi, M. T., Magnani, C. and Musio, A. (2012), SMC1A codon 496 mutations affect the cellular response to genotoxic treatments. Am. J. Med. Genet., 158A: 224–228. doi: 10.1002/ajmg.a.34384
- Issue published online: 19 DEC 2011
- Article first published online: 2 DEC 2011
- Manuscript Accepted: 24 OCT 2011
- Manuscript Received: 3 JUN 2010
- Tuscany Region
- Cornelia de Lange syndrome;
- SMC1A codon 496;
- recurring mutation;
- cellular response to genotoxic treatments
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.