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首页> 外文期刊>The Journal of dermatology >Novel mutations in one allele in a Chinese family with neurofibromatosis type 1: Including a complex insertion-deletion mutation
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Novel mutations in one allele in a Chinese family with neurofibromatosis type 1: Including a complex insertion-deletion mutation

机译：中国1型神经纤维瘤病家庭中一个等位基因的新型突变：包括复杂的插入-缺失突变

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摘要

Neurofibromatosis type 1 (NF1) is a hereditary disease with variable clinical manifestations. This study was performed in a Chinese three-generation family containing two members with NF1. Two novel mutations, c.853_854insTC and c.1975_1976delinsTA, were identified in the same allele in both patients by direct sequencing. By reverse transcription polymerase chain reaction, we found that the NF1 transcript contained the first mutation instead of the second mutation, suggesting a pathological role of c.853_854insTC mutation. Case reports of patients with two NF1 mutations in the same allele have not been reported. Our findings expand the known spectrum of NF1 mutations and the ongoing recognition of different mutations may give insight into the mysterious NF1 pathogenesis.
机译：1型神经纤维瘤病（NF1）是一种具有多种临床表现的遗传性疾病。这项研究是在一个由两个成员组成的NF1的中国三代家庭中进行的。通过直接测序在两名患者的同一等位基因中鉴定出两个新突变，即c.853_854insTC和c.1975_1976delinsTA。通过逆转录聚合酶链反应，我们发现NF1转录本包含第一个突变而不是第二个突变，表明c.853_854insTC突变的病理作用。尚未报告在同一等位基因中具有两个NF1突变的患者的病例报告。我们的发现扩大了已知的NF1突变谱，对不同突变的不断识别可能会深入了解神秘的NF1发病机理。

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