ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome.

作者：CJ Curry, Patricia O'Lague, Jin‐Wu Tsai, H. Terry Hutchison, N.G.J. Jaspers, D. W. Wara, Richard A. Gatti, H T Hutchinson · 发表于：PubMed · 年份：1989 · 被引用次数：61 · 研究领域：DNA Repair Mechanisms、Carcinogens and Genotoxicity Assessment

This report describes twin girls with typical features of ataxia-telangiectasia, including increased alpha-fetoprotein, radio-resistant DNA synthesis, characteristic chromosome abnormality, and immunodeficiency. They have, in addition, microcephaly and mental retardation. Complementation studies were performed utilizing Sendai virus--mediated fusion of fibroblast cell lines. Complementation was observed with patients in ataxia-telangiectasia complementation groups A, C, and E but not with the cell line from a patient with the Nijmegen breakage syndrome, in which patients have microcephaly, radio-resistant DNA synthesis, chromosome aberrations, and immunodeficiency but lack ataxia and telangiectasia. These data suggest that the Nijmegen breakage syndrome and the patients described here are not genetically distinct entities but form a spectrum of one disorder.