Falah, M. and Houshmand, M. and Balali, M. and Asghari, A. and Bagher, Z. and Alizadeh, R. and Farhadi, M. (2020) Role of GJB2 and GJB6 in Iranian Nonsyndromic Hearing Impairment: From Molecular Analysis to Literature Reviews. Fetal and Pediatric Pathology, 39 (1). pp. 1-12.
Full text not available from this repository.Abstract
Background: Hearing impairment (HI) is a heterogeneous disorder. GJB2 and GJB6 genes are typically the first line of genetic screening before proceeding to any massive parallel sequencing. We evaluated the clinical utility of GJB2 and GJB6 testing in the Iranian population. Methods:GJB2 and GJB6 were sequenced. PubMed and Google Scholar were searched for Iranian publications on deletions in the DFNB1 locus. Results: We detected mutations of GJB2 in 16.5, and no mutations of GJB6. Literature review revealed no reports of mutations of GJB6 in the Iranian population. Conclusion: This data and literature reviews indicate that GJB6 is not commonly responsible for Iranian nonsyndromic HI. Hence, the clinical utility of GJB6 genetic analysis as a first line for HI evaluation does not have the same utility as GJB2. The study is consistent with recent studies emphasizing the role of ethnicity in the selection of HI genetic testing strategy. © 2019, © 2019 Taylor & Francis Group, LLC.
| Item Type: | Article |
|---|---|
| Additional Information: | cited By 2 |
| Uncontrolled Keywords: | connexin 26; connexin 30, Article; gene deletion; gene locus; genetic analysis; genetic counseling; genetic screening; hearing impairment; high throughput sequencing; human; Iranian people; nonsyndromic hearing loss; prevalence; priority journal; systematic review |
| Subjects: | WV Otolaryngology |
| Depositing User: | eprints admin |
| Date Deposited: | 02 Sep 2020 04:08 |
| Last Modified: | 02 Sep 2020 04:08 |
| URI: | http://eprints.iums.ac.ir/id/eprint/24188 |
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