GJB4 and GJC3 variants in non-syndromic hearing impairment in Ghana.

Experimental Biology and Medicine
Samuel M AdadeyAmbroise Wonkam

Abstract

Although connexins are known to be the major genetic factors associated with HI, only a few studies have investigated GJB4 and GJC3 variants among hearing-impaired patients. This study is the first to report GJB4 and GJC3 variants from an African HI cohort. We have demonstrated that GJB4 and GJC3 genes may not contribute significantly to HI in Ghana, hence these genes should not be considered for routine clinical screening in Ghana. However, it is important to study a larger population to determine the association of GJB4 and GJC3 variants with HI.

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Citations

Oct 6, 2021·Human Genetics·Samuel Mawuli AdadeyAmbroise Wonkam

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Methods Mentioned

BETA
PCR
X-ray
nuclear magnetic resonance

Software Mentioned

MutationTaster
MutPred2 ( Mutation Prediction 2 )
Galaxy
RAMPAGE
PROVEAN ( Protein Variation Effect Analyzer )
PER viewer
PyMOL
Modeler
Ensembl
InterVar

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