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Article

Mutations in NSUN2 cause autosomal-recessive intellectual disability.

American journal of human genetics - 4 May 2012

Abbasi-Moheb Lia, Mertel Sara, Gonsior Melanie, Nouri-Vahid Leyla, Kahrizi Kimia, Cirak Sebahattin, Wieczorek Dagmar, Motazacker M Mahdi, Esmaeeli-Nieh Sahar, Cremer Kirsten, Weißmann Robert, Tzschach Andreas, Garshasbi Masoud, Abedini Seyedeh S, Najmabadi Hossein, Ropers H Hilger, Sigrist Stephan J, Kuss Andreas W

Abstract excerpt

With a prevalence between 1 and 3%, hereditary forms of intellectual disability (ID) are among the most important problems in health care. Particularly, autosomal-recessive forms of the disorder have a very heterogeneous molecular basis, and genes with an increased number of disease-causing mutations are not common. Here, we report on three different mutations (two nonsense mutations, c.679C>T [p.Gln227(∗)] and...

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Identifiers

PMID: 22541559
DOI: 10.1016/j.ajhg.2012.03.021
PMCID: PMC3376487

Genes

NSUN2

Variants

Provenance

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