Abstract
Abstract
Background
Clinical genetic diagnosis of non-syndromic hearing loss (NSHL) is quite challenging. With regard to its high heterogeneity as well as large size of some genes, it is also really difficult to detect causative mutations using traditional approaches. One of the recent technologies called whole-exome sequencing (WES) has been thus developed in this domain to remove the limitations of conventional methods.
Methods
This study was a report on a research study of two unrelated pedigrees with multiple affected cases of hearing loss (HL). Accordingly, clinical evaluations and genetic analysis were performed in both families.
Results
The results of WES data analysis to uncover autosomal recessive non-syndromic hearing loss (ARNSHL) disease-causing variants was reported in the present study. Initial analysis identified two novel variants of MYO15A i.e. c.T6442A:p.W2148R and c.10504dupT:p.C3502Lfs*15 correspondingly which were later confirmed by Sanger validations and segregation analyses. According to online prediction tools, both identified variants seemed to have damaging effects.
Conclusion
In this study, whole exome sequencing were used as a first approach strategy to identify the two novel variants in MYO15A in two Iranian families with ARNSHL.
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference31 articles.
1. Motavaf M, Soveizi M, Maleki M, Mahdieh N. MYO15A splicing mutations in hearing loss: a review literature and report of a novel mutation. Int J Pediatr Otorhinolaryngol. 2017;96:35–8.
2. Najmabadi H, Kahrizi K. Genetics of non-syndromic hearing loss in the Middle East. Int J Pediatr Otorhinolaryngol. 2014;78(12):2026–36.
3. Beheshtian M, Babanejad M, Azaiez H, Bazazzadegan N, Kolbe D, Sloan-Heggen C, et al. Heterogeneity of hereditary hearing loss in Iran: a comprehensive review. Arch Iran Med. 2016;19(10):720.
4. Khatami S, Rokni-Zadeh H, Mohsen-Pour N, Biglari A, Changi-Ashtiani M, Shahrooei M, et al. Whole exome sequencing identifies both nuclear and mitochondrial variations in an Iranian family with non-syndromic hearing loss. Mitochondrion. 2019;46:321–5.
5. Woo H-M, Park H-J, Baek J-I, Park M-H, Kim U-K, Sagong B, et al. Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families. BMC Med Genet. 2013;14(1):72.
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