Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657de15, in three Slav populations
Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657de15, in three Slav populations
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DOI：
10.1038/sj.ejhg.5200554
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发表时间：
2000-11-01
影响因子：
5.2
通讯作者：
Reis, A
中科院分区：
文献类型：
--
作者：
Varon, R;Seemanova, E;Reis, A
奈梅亨断裂综合征（NBS）是一种染色体不稳定性疾病，临床上以小头畸形、免疫缺陷、放射敏感性和淋巴系统恶性肿瘤的高度易感性为特征。最近，研究表明NBS 1基因的突变是NBS的原因。目前已知的大多数NBS患者都是斯拉夫人，并在NBS 1基因的第6外显子中携带一个主要的创始人突变657 del 5。在这项研究中，我们估计了657 del 5突变在捷克共和国，波兰和乌克兰的患病率。我们在三个斯拉夫人群体中发现了657 del 5突变（1/177）的意外高携带频率，这可能是导致这些国家癌症频率的一个因素。此外，我们表明，NBS患者往往诊断晚，因此接受不适当的治疗。
Nijmegen breakage syndrome (NBS) is a chromosomal instability disorder, clinically characterised by microcephaly, immunodeficiency, radiosensitivity and a very high predisposition to lymphoid malignancy. Recently, it was demonstrated that mutations in the NBS1 gene are responsible for NBS. Most of the NBS patients known so far are of Slav origin and carry a major founder mutation 657del5 in exon 6 of the NBS1 gene. In this study we estimated the prevalence of the 657del5 mutation in the Czech Republic, Poland and the Ukraine. We found an unexpectedly high carrier frequency of the 657del5 mutation (1/177) in the three Slav populations, a factor that may contribute to cancer frequency in those countries. In addition, we show that NBS patients are often diagnosed late and therefore receive inappropriate therapy.