Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic Analysis

Q2 Biochemistry, Genetics and Molecular Biology

Iranian Biomedical Journal Pub Date : 2022-11-01 DOI:10.52547/ibj. 3713

Amin Hosseini Nami, Mahboubeh Kabiri, Sirous Zeinali

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Abstract

Background: Cystic fibrosis (CF) is the most common heredity disease among the Caucasian population. More than 350 known pathogenic variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (NM_000492.4) cause CF. Herein, we report the outcome of our investigation in two unrelated Iranian families with CF patients.

Methods: We conducted phenotypic examination, segregation, linkage analysis, and CFTR gene sequencing to define causative mutations.

Results: We found two novel mutations in the present study. The first one was a deletion causing frameshift, c.299delT p.(Leu100Profs*7), and the second one was a missense mutation, c.1857G>T, at nucleotide binding domain 1 of the CFTR protein. Haplotype segregation data supported our new mutation findings.

Conclusion: Findings of this study expand the spectrum of CFTR pathogenic variations and can improve prenatal diagnosis and genetic counseling for CF.

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报道两个伊朗囊性纤维化家族的两个新突变，分子和生物信息学分析

背景:囊性纤维化(CF)是高加索人群中最常见的遗传性疾病。囊性纤维化跨膜传导调节(CFTR)基因(NM_000492.4)中超过350种已知的致病变异导致CF。在此，我们报告了我们对两个无血缘关系的伊朗CF患者家庭的调查结果。方法:通过表型检查、分离、连锁分析和CFTR基因测序来确定致病突变。结果:我们在本研究中发现了两个新的突变。第一个是导致移码的缺失，c.299delT p.(Leu100Profs*7)，第二个是CFTR蛋白核苷酸结合域1的错义突变，c.1857G>T。单倍型分离数据支持我们新的突变发现。结论:本研究结果扩大了CFTR致病变异谱，可改善CF的产前诊断和遗传咨询。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Iranian Biomedical Journal Biochemistry, Genetics and Molecular Biology-Biochemistry, Genetics and Molecular Biology (all)

CiteScore

3.20

自引率

0.00%

发文量

审稿时长

8 weeks