Abstract：
Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations in the NF1 gene. This disorder shows nearly complete penetrance and high phenotypic variability. We used the whole-exome sequencing technique to identify mutations in 32 NF1 cases from 22 Iranian families. A total of 31 variants, including 30 point mutations and one large deletion, were detected. In eight cases, variants were inherited, while they were sporadic in the remaining. Seven novel variants, including c.5576 T > G, c.6658_6659insC, c.2322dupT, c.92_93insAA, c.4360C > T, c.3814C > T, and c.4565_4566delinsC, were identified. The current study is the largest in terms of the sample size of Iranian NF1 cases with identified mutations. The results can broaden the spectrum of NF1 mutations and facilitate the process of genetic counseling in the affected families.
摘要：
1型神经纤维瘤病（NF1）是由NF1基因突变引起的遗传性疾病。这种疾病显示出几乎完全的外显率和高度的表型变异性。我们使用全外显子组测序技术来鉴定来自22个伊朗家庭的32个NF1病例中的突变。总共31个变体，包括30个点突变和一个大缺失，被检测到。在八个案例中，变异是遗传的，而剩下的是零星的。七个新颖的变体，包括c.5576T>G，c.6658_6659insC,c.2322dupT，c.92_93insAA，c.4360C>T，c.3814C>T,和c.4565_4566delinsC，已确定。就已确定的突变的伊朗NF1病例的样本量而言，当前的研究是最大的。该结果可以拓宽NF1突变的范围，并促进受影响家庭的遗传咨询过程。
