SMC1A codon 496 mutations affect the cellular response to genotoxic treatments

Linda Mannini, Stefania Menga, Alessandra Tonelli, Silvia Zanotti, Maria Teresa Bassi, Cinzia Magnani, Antonio Musio

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)224-228
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number1
DOIs
Publication statusPublished - Jan 2012

Keywords

  • Cellular response to genotoxic treatments
  • Cornelia de Lange syndrome
  • Recurring mutation
  • SMC1A codon 496

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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