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

• Published in: Fetal and pediatric pathology Vol. 38; no. 2; pp. 93 - 102
• Main Authors: Alimardani, Maliheh, Hosseini, Seyed Mojtaba, Khaniani, Mahmoud Shekari, Haghi, Mohsen Rajati, Eslahi, Atieh, Farjami, Mashsa, Chezgi, Javad, Derakhshan, Sima Mansoori, Mojarrad, Majid
• Format: Journal Article
• Language: English
• Published: England Taylor & Francis 04.03.2019
• Subjects: Adolescent; Adult; Cadherins - genetics; CDH23; Child; Child, Preschool; Deafness - diagnosis; Deafness - genetics; DNA Mutational Analysis - methods; Female; Gene Frequency - genetics; Hearing Loss - genetics; Humans; Infant; Iran; Iranian population; Male; Mutation - genetics; MYO6; Myosin Heavy Chains - genetics; Nerve Tissue Proteins - genetics; nonsyndromic hearing loss; PJVK; SLC26A4; Sulfate Transporters - genetics; Young Adult; Iran; CDH23; nonsyndromic hearing loss; PJVK; Iranian population; SLC26A4; MYO6
• ISSN: 1551-3815; 1551-3823
• DOI: 10.1080/15513815.2018.1547336

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.554-1 G > 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.