Frequency of GJB2 mutations, GJB6‐D13S1830 and GJB6‐D13S1854 deletions among patients with non‐syndromic hearing loss from the central region of Iran
| Autor: | Shiva Irani, Hossein Naddafnia, Iman Salahshoorifar, Zahra Noormohammadi |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Heterozygote lcsh:QH426-470 Genotype Hearing loss autosomal recessive nonsyndromic hearing loss Hearing Loss Sensorineural connexin 26 030105 genetics & heredity Deafness Iran GJB2 mutation Connexins 03 medical and health sciences Gene Frequency Polymorphism (computer science) Genetics medicine otorhinolaryngologic diseases Humans Hearing Loss Molecular Biology Gene Allele frequency Genetics (clinical) Alleles Sequence Deletion GJB6 mutation biology Original Articles Penetrance connexin 30 lcsh:Genetics 030104 developmental biology Mutation biology.protein Original Article medicine.symptom Consanguineous Marriage GJB6 Founder effect |
| Zdroj: | Molecular Genetics & Genomic Medicine Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019) |
| ISSN: | 2324-9269 |
| Popis: | Background In the present study, we investigate the prevalence of the GJB2 gene mutations, and deletions in the GJB6 gene, namely del (GJB6‐D13S1830) and del (GJB6‐D13S1854), in patients with autosomal recessive non‐syndromic hearing loss (ARNSHL) from the central region of Iran. Methods One hundred and thirty‐one unrelated ARNSHL cases from the central part of Iran were recruited. Among them, 81% (106 cases) had at least two affected relatives. Coding and noncoding regions of the GJB2 gene were sequenced. Multiplex PCR was used for analysis of del (GJB6‐D13S1830) and del (GJB6‐D13S1854) deletions in GJB6. Results The GJB2 variants were found in 16.79% (22/131) of the patients. The pathogenic variants were 21/131 (16.03%). The nonpathogenic variants were 1/131 (0. 07%). Allele frequency of the c.35delG as the pathogenic variant was the most common with 59.52% (25/42). The remaining pathogenic variants were c.235delC, p.T8M, p.R32H, p.R143Q, p.R143W, c‐23+1G>A. The only nonpathogenic variant was polymorphism p.V27I. Further segregation analysis showed that variant of p.R143Q might have incomplete penetrance. None of the patients had targeted deletions in the GJB6 gene. Conclusion In comparison with reports from other areas of Iran, c.35delG demonstrates the highest frequency within the central region (accounting for 57.14% of cases), probably resulting from the founder effect and consanguineous marriage. The pathology of ARNSHL in such patients could be attributed to defects in Connexin 26 encoded by GJB2. |
| Databáze: | OpenAIRE |
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