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 …

Connexin genes variants associated with non-syndromic hearing impairment: a systematic review of the global burden

SM Adadey, E Wonkam-Tingang, E Twumasi Aboagye… - Life, 2020 - mdpi.com
Mutations in connexins are the most common causes of hearing impairment (HI) in many
populations. Our aim was to review the global burden of pathogenic and likely pathogenic …

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 …

Hearing impairment overview in Africa: the case of Cameroon

E Wonkam Tingang, JJ Noubiap, JV F. Fokouo… - Genes, 2020 - mdpi.com
The incidence of hearing impairment (HI) is higher in low-and middle-income countries
when compared to high-income countries. There is therefore a necessity to estimate the …

Genetic testing for congenital non-syndromic sensorineural hearing loss

M Raymond, E Walker, I Dave, K Dedhia - International journal of pediatric …, 2019 - Elsevier
Introduction Approximately 60% of congenital pediatric hearing loss is of genetic etiology. To
evaluate non-syndromic sensorineural hearing loss (NSSNHL), guidelines emphasize the …

The genetic basis of deafness in populations of African descent

JR Rudman, RI Kabahuma, SE Bressler, Y Feng… - Journal of genetics and …, 2017 - Elsevier
Hearing loss is the most common sensorineural disorder worldwide and is associated with
more than 1000 mutations in more than 90 genes. While mutations in genes such as GJB2 …

Common and founder mutations for monogenic traits in sub-Saharan African populations

A Krause, H Seymour, M Ramsay - Annual review of genomics …, 2018 - annualreviews.org
This review highlights molecular genetic studies of monogenic traits where common
pathogenic mutations occur in black families from sub-Saharan Africa. Examples of founder …

[HTML][HTML] GJB2 and GJB6 mutations in hereditary recessive non-syndromic hearing impairment in Cameroon

ET Wonkam, E Chimusa, JJ Noubiap, SM Adadey… - Genes, 2019 - ncbi.nlm.nih.gov
This study aimed to investigate GJB2 (connexin 26) and GJB6 (connexin 30) mutations
associated with familial non-syndromic childhood hearing impairment (HI) in Cameroon. We …

Whole exome sequencing reveals pathogenic variants in MYO3A, MYO15A and COL9A3 and differential frequencies in ancestral alleles in hearing impairment …

A Wonkam, N Manyisa, CD Bope… - Human molecular …, 2020 - academic.oup.com
There is scarcity of known gene variants of hearing impairment (HI) in African populations.
This knowledge deficit is ultimately affecting the development of genetic diagnoses. We …

Etiology and associated GJB2 mutations in Mauritanian children with non-syndromic hearing loss

ECM Moctar, Z Riahi, H El Hachmi, F Veten… - European Archives of …, 2016 - Springer
Origins of all hearing impairment forms may be divided into genetic mutations and acquired
influence. Both carry damage to the inner ear structure resulting in a mild to profound …