GJB2‐associated hearing loss: Systematic review of worldwide prevalence, genotype, and auditory phenotype

DK Chan, KW Chang - The Laryngoscope, 2014 - Wiley Online Library
Objectives/Hypothesis To perform a systematic review of GJB2‐associated hearing loss to
describe genotype distributions and auditory phenotype. Data Sources 230 primary studies …

Ethnic-Specific Spectrum of GJB2 and SLC26A4 Mutations: Their Origin and a Literature Review

K Tsukada, S Nishio, M Hattori… - Annals of Otology …, 2015 - journals.sagepub.com
Objective: The mutation spectrum of the GJB2 and SLC26A4 genes, the 2 most common
genes causing deafness, are known to be ethnic specific. In this study, the spectrum of the …

[HTML][HTML] Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

N Mahdieh, B Rabbani, S Wiley, MT Akbari… - Journal of human …, 2010 - nature.com
Hearing loss (HL) is the most prevalent sensory defect affecting 1 in 500 neonates. Genetic
factors are involved in half of the cases. The extreme heterogeneity of HL makes it difficult to …

[HTML][HTML] GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana

SM Adadey, N Manyisa, K Mnika, C De Kock… - Frontiers in …, 2019 - frontiersin.org
Our study aimed to investigate GJB2 (connexin 26) and GJB6 (connexin 30) mutations
associated with non-syndromic childhood hearing impairment (HI) as well as the …

Update of spectrum c.35delG and c.‐23+1G>A mutations on the GJB2 gene in individuals with autosomal recessive nonsyndromic hearing loss

F Azadegan‐Dehkordi, R Ahmadi… - Annals of human …, 2019 - Wiley Online Library
Hearing loss (HL) is the most common birth defect and the most prevalent sensorineural
condition worldwide. It is associated with more than 1,000 mutations in at least 90 genes …

[HTML][HTML] Genetic epidemiology and clinical features of hereditary hearing impairment in the Taiwanese population

CC Wu, CY Tsai, YH Lin, PY Chen, PH Lin, YF Cheng… - Genes, 2019 - mdpi.com
Hereditary hearing impairment (HHI) is a common but heterogeneous clinical entity caused
by mutations in a plethora of deafness genes. Research over the past few decades has …

[HTML][HTML] Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families

S Shafique, S Siddiqi, M Schraders, J Oostrik, H Ayub… - PloS one, 2014 - journals.plos.org
The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss
(ARNSHL) in Pakistan is 1.6/1000 individuals. More than 50% of the families carry mutations …

Connexin 26 (GJB2) Mutations Associated with Non-Syndromic Hearing Loss (NSHL)

S Mishra, H Pandey, P Srivastava, K Mandal… - The Indian Journal of …, 2018 - Springer
Objective To 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 …

Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India

B Adhikary, S Ghosh, S Paul, B Bankura… - Gene, 2015 - Elsevier
Genetically caused nonsyndromic hearing loss is highly heterogeneous. Inspite of this large
heterogeneity, mutations in the genes GJB2, GJB6 and SLC26A4 are major contributors …

[HTML][HTML] Genetics of hearing loss in Africans: use of next generation sequencing is the best way forward

K Lebeko, J Bosch, JJN Noubiap… - The Pan African …, 2015 - ncbi.nlm.nih.gov
Hearing loss is the most common communication disorder affecting about 1-7/1000 births
worldwide. The most affected areas are developing countries due toextensively poor health …