A Comprehensive Overview of NF1 Mutations in Iranian Patients.

IF 4.3 3区材料科学 Q1 ENGINEERING, ELECTRICAL & ELECTRONIC

ACS Applied Electronic Materials Pub Date : 2024-07-02 DOI:10.1007/s12017-024-08790-5

Shahram Savad, Mohammad-Hossein Modarressi, Sarang Younesi, Mahnaz Seifi-Alan, Niusha Samadaian, Mona Masoomy, Mehdi Dianatpour, Shima Norouzi, Saloomeh Amidi, Amirreza Boroumand, Mahmoud Reza Ashrafi, Alireza Ronagh, Maryam Eslami, Maryam Hashemnejad, Shahab Nourian, Sanaz Mohammadi, Mohammad Mahdi Taheri Amin, Morteza Heidari, Mahin Seifi-Alan, Hossein Shojaaldini Ardakani, Fatemeh Aghamahdi, Sheyda Khalilian, Soudeh Ghafouri-Fard

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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.

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伊朗患者 NF1 基因突变综述

1 型神经纤维瘤病（NF1）是一种由 NF1 基因突变引起的遗传性疾病。这种疾病具有几乎完全的渗透性和高度的表型变异性。我们利用全外显子组测序技术，对来自 22 个伊朗家庭的 32 例 NF1 病例进行了基因突变鉴定。共检测到 31 个变异，包括 30 个点突变和 1 个大缺失。在 8 个病例中，变异是遗传性的，而在其余病例中则是散发性的。发现了 7 个新变异，包括 c.5576 T > G、c.6658_6659insC、c.2322dupT、c.92_93insAA、c.4360C > T、c.3814C > T 和 c.4565_4566delinsC。就已发现突变的伊朗 NF1 病例样本量而言，本研究是最大的。研究结果可以扩大 NF1 基因突变的范围，促进受影响家庭的遗传咨询进程。

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来源期刊

ACS Applied Electronic Materials Multiple-

CiteScore

7.20

自引率

4.30%

发文量

567