International Journal of Hematology

DOI: 10.1007/s12185-012-1240-5 Pages: 37-42

XCIND as a genetic disease of X-irradiation hypersensitivity and cancer susceptibility

1. Tokyo Medical and Dental University, Department of Pediatrics and Developmental Biology

Correspondence to:
Shuki Mizutani
Tel: +81-3-58035244
Fax: +81-3-58035247
Email: skkmiz@gmail.com

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Abstract

The XCIND syndrome is named after distinct hypersensitivity to ionizing (X-ray) irradiation, cancer susceptibility, immunodeficiency, neurological abnormality, and double-strand DNA breakage. The disorders comprising XCIND syndrome are usually inherited in an autosomal recessive manner. Ataxia telangiectasia (A-T) is one such disease, and is caused by biallelic germline mutation of the Ataxia telangiectasia mutated (ATM) gene. Heterozygous carriers of the ATM mutation, who do not show A-T-like clinical symptoms, are estimated to comprise 1 % of the population. Thus, understanding the biological basis of XCIND, including A-T, should help shed light on the pathogenesis of genetic diseases with cancer susceptibility.

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