How to cite this article: Pié J, Gil-Rodríguez MC, Ciero M, López-Viñas E, Ribate MP, Arnedo M, Deardorff MA, Puisac B, Legarreta J, de Karam JC, Rubio E, Bueno I, Baldellou A, Calvo MªT, Casals N, Olivares JL, Losada A, Hegardt FG, Krantz ID, Gómez-Puertas P, Ramos FJ. 2010. Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. Am J Med Genet Part A 152A:924–929.
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome†
Article first published online: 26 MAR 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 152A, Issue 4, pages 924–929, April 2010
How to Cite
Pié, J., Gil-Rodríguez, M. C., Ciero, M., López-Viñas, E., Ribate, M. P., Arnedo, M., Deardorff, M. A., Puisac, B., Legarreta, J., de Karam, J. C., Rubio, E., Bueno, I., Baldellou, A., Calvo, M. T., Casals, N., Olivares, J. L., Losada, A., Hegardt, F. G., Krantz, I. D., Gómez-Puertas, P. and Ramos, F. J. (2010), Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. Am. J. Med. Genet., 152A: 924–929. doi: 10.1002/ajmg.a.33348
- Issue published online: 26 MAR 2010
- Article first published online: 26 MAR 2010
- Manuscript Accepted: 11 DEC 2009
- Manuscript Received: 1 AUG 2008
- Spanish Ministry of Health-Fondo de Investigación Sanitaria (FIS). Grant Number: PI061343
- Diputación General de Aragón (DGA, Grupo Consolidado B20)
- Spanish Ministry of Education and Science. Grant Number: SAF2004-06843
- Comunidad de Madrid´s Activities Program R&D Groups in Biosciences. Grant Number: S-BIO-0260/2006-COMBACT
- Ajut de Suport als Grups de Recerca de Catalunya. Grant Number: 2005SGR-00733
- NICHD. Grant Number: 5PO1HD052860
- Fundación Ramón Areces
- Banco Santander Central Hispano. Grant Number: B120/2006
- Diputación General de Aragón. Grant Number: B120/2006
- Cornelia de Lange syndrome (CdLS);
Cornelia de Lange syndrome (CdLS) manifests facial dysmorphic features, growth and cognitive impairment, and limb malformations. Mutations in three genes (NIPBL, SMC1A, and SMC3) of the cohesin complex and its regulators have been found in affected patients. Here, we present clinical and molecular characterization of 30 unrelated patients with CdLS. Eleven patients had mutations in NIPBL (37%) and three patients had mutations in SMC1A (10%), giving an overall rate of mutations of 47%. Several patients shared the same mutation in NIPBL (p.R827GfsX2) but had variable phenotypes, indicating the influence of modifiers in CdLS. Patients with NIPBL mutations had a more severe phenotype than those with mutations in SMC1A or those without identified mutations. However, a high incidence of palate defects was noted in patients with SMC1A mutations. In addition, we observed a similar phenotype in both male and female patients with SMC1A mutations. Finally, we report the first patient with an SMC1A mutation and the Sandifer complex. © 2010 Wiley-Liss, Inc.