The Analysis of GJB2, GJB3, and GJB6 Gene Mutations in Patients with Hereditary Non-Syndromic Hearing Loss Living in Sivas Article Swipe
Hande Küçük Kurtulgan
,
Emine Elif Altuntaş
,
Malik Ejder Yıldırım
,
Öztürk Özdemir
,
Binnur Bağcı
,
İlhan Sezgin
·
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.5152/iao.2019.5401
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.5152/iao.2019.5401
OBJECTIVES: The aim of the present study was to investigate the presence of GJB2, GJB3, and GJB6 gene mutations in non-syndromic sensorineural hearing loss (NSHL) cases living in Sivas region, to provide appropriate genetic counseling for cases who were found to have mutation, and to contribute to decrease the frequency of mutant allele in the next generation and plan treatment and rehabilitation with early diagnosis. MATERIALS and METHODS: The study included 53 unrelated cases that were diagnosed with congenital NSHL between June 2009 and March 2010. Multiplex ligation-dependent probe amplification method was used for genotyping of GJB2, GJB3, and GJB6 gene mutations. RESULTS: Heterozygous 35delG variant was determined in 1.9% (n=1) of cases, homozygous 35delG in 15.1% (n=8), heterozygous IVS1+1G>A mutation in 1.9% (n=1), compound heterozygous in 3.8% (n=2), and homozygous IVS1+1G>A variant in 3.8% (n=2). None of the cases had mutation in GJB3 and GJB6 genes. Mutated allele frequencies in the present study were found to be 17.9% for 35delG and 6.6% for IVS1+1G>A. CONCLUSION: The present study showed that 35delG mutation is the most common variant in the Sivas region, and that IVS1+1G>A mutation should be investigated in hearing loss. Another result of the present study was that genetic analyzes would allow early diagnosis of hearing impairments particularly when infants whose parents have consanguinity do not pass the newborn hearing screening. Cite this article as: Küçük Kurtulgan H, Altuntaş EE, Yıldırım ME, Özdemir Ö, Bağcı B, Sezgin İ. The Analysis of GJB2, GJB3, and GJB6 Gene Mutations in Patients with Hereditary Non-Syndromic Hearing Loss Living in Sivas. J Int Adv Otol 2019; 15(3): 373-8.
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- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.5152/iao.2019.5401
- OA Status
- diamond
- Cited By
- 8
- References
- 48
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2995054724
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W2995054724Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.5152/iao.2019.5401Digital Object Identifier
- Title
-
The Analysis of GJB2, GJB3, and GJB6 Gene Mutations in Patients with Hereditary Non-Syndromic Hearing Loss Living in SivasWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2019Year of publication
- Publication date
-
2019-12-17Full publication date if available
- Authors
-
Hande Küçük Kurtulgan, Emine Elif Altuntaş, Malik Ejder Yıldırım, Öztürk Özdemir, Binnur Bağcı, İlhan SezginList of authors in order
- Landing page
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https://doi.org/10.5152/iao.2019.5401Publisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
diamondOpen access status per OpenAlex
- OA URL
-
https://doi.org/10.5152/iao.2019.5401Direct OA link when available
- Concepts
-
Hearing loss, Compound heterozygosity, Genetics, Mutation, Allele, Medicine, Genotyping, Audiology, Gene, Biology, GenotypeTop concepts (fields/topics) attached by OpenAlex
- Cited by
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8Total citation count in OpenAlex
- Citations by year (recent)
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2025: 3, 2023: 1, 2021: 2, 2020: 2Per-year citation counts (last 5 years)
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48Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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