Selection of Diagnostically Significant Regions of the <i>SLC26A4</i> Gene Involved in Hearing Loss
Screening pathogenic variants in the <i>SLC26A4</i> gene is an important part of molecular genetic testing for hearing loss (HL) since they are one of the common causes of hereditary HL in many populations. However, a large size of the <i>SLC26A4</i> gene (20 coding exons) pr...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-11-01
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| Series: | International Journal of Molecular Sciences |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1422-0067/23/21/13453 |
| Summary: | Screening pathogenic variants in the <i>SLC26A4</i> gene is an important part of molecular genetic testing for hearing loss (HL) since they are one of the common causes of hereditary HL in many populations. However, a large size of the <i>SLC26A4</i> gene (20 coding exons) predetermines the difficulties of its complete mutational analysis, especially in large samples of patients. In addition, the regional or ethno-specific prevalence of <i>SLC26A4</i> pathogenic variants has not yet been fully elucidated, except variants c.919-2A>G and c.2168A>G (p.His723Arg), which have been proven to be most common in Asian populations. We explored the distribution of currently known pathogenic and likely pathogenic (PLP) variants across the <i>SLC26A4</i> gene sequence presented in the Deafness Variation Database for the selection of potential diagnostically important parts of this gene. As a result of this bioinformatic analysis, we found that molecular testing ten <i>SLC26A4</i> exons (4, 6, 10, 11, 13–17 and 19) with flanking intronic regions can provide a diagnostic rate of 61.9% for all PLP variants in the <i>SLC26A4</i> gene. The primary sequencing of these <i>SLC26A4</i> regions may be applied as an initial effective diagnostic testing in samples of patients of unknown ethnicity or as a subsequent step after the targeted testing of already-known ethno- or region-specific pathogenic <i>SLC26A4</i> variants. |
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| ISSN: | 1661-6596 1422-0067 |