ReviewIndian journal of pediatrics2018
Connexin 26 (GJB2) Mutations Associated with Non-Syndromic Hearing Loss (NSHL).
Review in Indian journal of pediatrics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 35 citations in OpenAlex.
- Study Models for Non-Syndromic Hearing Loss.Cells · 2025Review
- Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population.Molecular diagnosis & therapy · 2025Article
- Unraveling the Genetic Basis of Combined Deafness and Male Infertility Phenotypes through High-Throughput Sequencing in a Unique Cohort from South India.Advanced genetics (Hoboken, N.J.) · 2024Article
- Development of Chinese herbal medicine for sensorineural hearing loss.Acta pharmaceutica Sinica. B · 2024Review
- Analysis of deafness susceptibility gene of neonates in northern Guangdong, China.Scientific reports · 2024Article
- Identification of a novel compound heterozygous pathogenic variant inThe Journal of international medical research · 2023Article
- Recognition and combination of multiple cell-death features showed good predictive value in lung adenocarcinoma.Heliyon · 2023Article
- A Chemical Chaperone Restores Connexin 26 Mutant Activity.ACS pharmacology & translational science · 2023Article
- Connexin 26 (GJB2) Mutations Associated with Congenital Hearing Loss in a Country of Different Migration Routes: Turkey.Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India · 2023Article
- Identification of novel compound heterozygous mutations of the MYO15A gene with autosomal recessive non-syndromic hearing loss.Journal of clinical laboratory analysis · 2022Article
- The protective effects of systemic dexamethasone on sensory epithelial damage and hearing loss in targeted Cx26-null mice.Cell death & disease · 2022Article
- Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.Journal of pediatric genetics · 2022Review
- Germline Mutations in Patients With Early-Onset Prostate Cancer.Frontiers in oncology · 2022Article
- Exploration of Biomarkers of Psoriasis through Combined Multiomics Analysis.Mediators of inflammation · 2022Article
- Molecular alteration in the Gap Junction Beta 2 (Intractable & rare diseases research · 2021Article
- Review
- Disease-associated variants of Gap Junction Beta 2 protein (GJB2) in the deaf population of Southern Punjab of Pakistan.PloS one · 2021Article
- Single gene variants causing deafness in Asian Indians.Journal of genetics · 2021Article
- Connexin30-Deficiency Causes Mild Hearing Loss With the Reduction of Endocochlear Potential and ATP Release.Frontiers in cellular neuroscience · 2021Article
- Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
objectiveTo determine the prevalence and spectrum of Connexin 26 (GJB2) mutations in pre-lingual non-syndromic hearing loss (NSHL) patients in authors' centre and to review the data of Indian patients from the literature.
methodsSanger sequencing of entire coding region contained in single exon (Exon 2) of GJB2 gene in 15 patients of NSHL.
resultsGJB2 mutations were found in 40% (6/15) of NSHL patients, out of which mono-allelic were 33.3% (2/6). Bi-allelic GJB2 mutations were identified in 4 of 6 patients. Most common GJB2 mutation identified was c.71G > A(p.W24X), comprising 30% of the total GJB2 mutant alleles. Six studies involving 1119 patients with NSHL were reviewed and 4 of them have reported c.71G > A(p.W24X) as the commonest mutation while 2 studies found c.35delG as the commonest. GJB2 mutations accounted for 10.9%-36% cases of NSHL. Sixteen other mutations in GJB2 gene were reported in Indian patients out of which 6 mutations other than c.71G > A(p.W24X) viz., c.35delG, c.1A > G(p.M1V), c.127G > A(p.V43 M), c.204C > G(p.Y86X), c.231G > A(p.W77X) and c.439G > A(p.E147K) were identified in the present study.
conclusionsConnexin 26 (GJB2) mutations are responsible for 19.4% of NSHL in Indian population. The c.71G > A(W24X) and c.35delG were the most prevalent GJB2 mutations accounting for 72.2% (234 of 324 total mutated alleles from 7 studies) and 15.4% (50 of 324 total mutated alleles from 7 studies) respectively. Thus, screening of these two common mutations in GJB2 gene by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) would greatly help in providing easy genetic diagnosis and help in genetic counseling of the families with NSHL.
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