Back to Search
Start Over
Frequency of GJB2 mutations, GJB6‐D13S1830 and GJB6‐D13S1854 deletions among patients with non‐syndromic hearing loss from the central region of Iran
- Source :
- Molecular Genetics & Genomic Medicine, Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)
- Publication Year :
- 2019
- Publisher :
- John Wiley and Sons Inc., 2019.
-
Abstract
- 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.
- Subjects :
- 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
Subjects
Details
- Language :
- English
- ISSN :
- 23249269
- Volume :
- 7
- Issue :
- 7
- Database :
- OpenAIRE
- Journal :
- Molecular Genetics & Genomic Medicine
- Accession number :
- edsair.doi.dedup.....335b30ddbeb017fbc2d91c14d465946c