Targeted Mutation Analysis of the SLC26A4, MYO6, PJVK and CDH23 Genes in Iranian Patients with AR Nonsyndromic Hearing Loss

被引：8

作者：

Alimardani, Maliheh ^{[1
,2
,3
]}

Hosseini, Seyed Mojtaba ^{[3
,4
]}

Khaniani, Mahmoud Shekari ^{[2
,5
]}

Haghi, Mohsen Rajati ^{[6
]}

Eslahi, Atieh ^{[3
,4
]}

Farjami, Mashsa ^{[3
,4
]}

Chezgi, Javad ^{[3
,4
]}

Derakhshan, Sima Mansoori ^{[1
,2
,5
]}

Mojarrad, Majid ^{[4
,7
]}

机构：

[1] Tabriz Univ Med Sci, Neurosci Res Ctr, Tabriz, Iran

[2] Tabriz Univ Med Sci, Dept Med Genet, Tabriz, Iran

[3] Mashhad Univ Med Sci, Fac Med, Student Res Comm, Mashhad, Razavi Khorasan, Iran

[4] Mashhad Univ Med Sci, Dept Med Genet, Mashhad, Razavi Khorasan, Iran

[5] Tabriz Univ Med Sci, Ebne Sina Med Genet Diagnost Lab, Tabriz, Iran

[6] Mashhad Univ Med Sci, ENT Res Ctr, Dept Head & Neck Surg, Mashhad, Razavi Khorasan, Iran

[7] Mashhad Univ Med Sci, Med Genet Res Ctr, Sch Med, Mashhad, Razavi Khorasan, Iran

来源：

FETAL AND PEDIATRIC PATHOLOGY | 2019年 / 38卷 / 02期

关键词：

Iranian population; nonsyndromic hearing loss; SLC26A4; MYO6; PJVK; CDH23; NON-SYNDROMIC DEAFNESS; SPLICE-SITE MUTATION; GJB2; MUTATIONS; HIGH-FREQUENCY; LARGE COHORT; MYOSIN-VI; SPECTRUM; FAMILIES; IMPAIRMENT; VARIANTS;

D O I：

10.1080/15513815.2018.1547336

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Background: Hearing loss (HL) is the most prevalent sensory disorder. The over 100 genes implicated in autosomal recessive nonsyndromic hearing loss (ARNSHL) makes it difficult to analyze and determine the accurate genetic causes of hearing loss. We sought to de?ne the frequency of seven hearing loss-Causing causing genetic Variants in four genes in an Iranian population with hearing loss. Materials and methods: One hundred ARNSHL patients with normal GJB2/GJB6 genes were included, and targeted mutations in SLC26A4, MYO6, PJVK and CDH23 genes were analyzed by ARMS-PCR. The negative and positive results were confirmed by the Sanger sequencing. Results: We found only two mutations, one in MYO6 (c.554-1G>A) gene and another in PJVK (c.547C>T). Conclusion: c.554-1G>A and c.547C>T mutations are responsible for 1% each of the Iranian ARNSHL patients. These genes are not a frequent cause of ARNSHL in an Iranian population.

引用

页码：93 / 102

页数：10

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