Ziv Y, Amiel A, Jaspers N G, Berkel A I, Shiloh Y
Department of Human Genetics, Sackler School of Medicine, Tel-Aviv University, Israel.
Mutat Res. 1989 Feb;210(2):211-9. doi: 10.1016/0027-5107(89)90081-x.
The clinical and cellular phenotype of ataxia telangiectasia (AT) has been extensively documented in numerous patients of different ethnic groups and is characterized by several specific laboratory hallmarks, such as chromosomal instability, profound radiosensitivity and radioresistant DNA synthesis. Several recent reports have, however, shown variations on this theme. This article describes 2 Turkish siblings with AT, who showed a typical but somewhat more prolonged clinical course of the disease and altered characteristics of fibroblast cells, compared to the 'classical' AT cellular phenotype. Fibroblast strains derived from these patients showed a normal cellular life span, moderate degrees of chromosomal instability and sensitivity to the lethal effects of X-rays and neocarzinostatin, and lack of radioresistant DNA synthesis. A compilation of the literature on 'AT variants' and 'AT-like' syndromes shows that in addition to the internal variability of AT, this disease occupies a limited segment within a large spectrum of clinical and cellular features, which are common to a variety of syndromes. Each of these syndromes covers a different segment in this spectrum. The genetic basis of this family of disorders might be complex.
共济失调毛细血管扩张症（AT）的临床和细胞表型已在众多不同种族的患者中得到广泛记录，其特征在于若干特定的实验室标志，如染色体不稳定性、深度放射敏感性和抗辐射DNA合成。然而，最近的几份报告显示了这一主题的变化。本文描述了2名患有AT的土耳其同胞，与“经典”的AT细胞表型相比，他们表现出典型但病程稍长的疾病过程以及成纤维细胞特征的改变。源自这些患者的成纤维细胞系显示出正常的细胞寿命、中度的染色体不稳定性以及对X射线和新制癌菌素致死效应的敏感性，并且缺乏抗辐射DNA合成。关于“AT变异型”和“AT样”综合征的文献汇编表明，除了AT的内部变异性之外，这种疾病在一系列广泛的临床和细胞特征中占据有限的部分，这些特征是多种综合征所共有的。这些综合征中的每一种在这个范围内都涵盖不同的部分。这一系列疾病的遗传基础可能很复杂。
