Age Estimate of <i>GJB2</i>-p.(Arg143Trp) Founder Variant in Hearing Impairment in Ghana, Suggests Multiple Independent Origins across Populations

Age Estimate of <i>GJB2</i>-p.(Arg143Trp) Founder Variant in Hearing Impairment in Ghana, Suggests Multiple Independent Origins across Populations

Gap junction protein beta 2 (<i>GJB2</i>) (connexin 26) variants are commonly implicated in non-syndromic hearing impairment (NSHI). In Ghana, the <i>GJB2</i> variant p.(Arg143Trp) is the largest contributor to NSHI and has a reported prevalence of 25.9% in affected multiplex...

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Bibliographic Details
Main Authors: Elvis Twumasi Aboagye, Samuel Mawuli Adadey, Kevin Esoh, Mario Jonas, Carmen de Kock, Lucas Amenga-Etego, Gordon A. Awandare, Ambroise Wonkam
Format: Article
Language:English
Published: MDPI AG 2022-03-01
Series:Biology
Subjects:
connexin 26 (Cx26)
non-syndromic hearing impairment
<i>GJB2</i>-p.Arg143Trp (c.427C > T) founder variant
variant origin
Ghana
Online Access:https://www.mdpi.com/2079-7737/11/3/476

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