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Article

A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana.

BMC medical genomics - 10 Nov 2022

Adadey Samuel Mawuli, Aboagye Elvis Twumasi, Esoh Kevin, Acharya Anushree, Bharadwaj Thashi, Lin Nicole S, Amenga-Etego Lucas, Awandare Gordon A, Schrauwen Isabelle, Leal Suzanne M, Wonkam Ambroise

Abstract excerpt

BACKGROUND: Childhood hearing impairment (HI) is genetically heterogeneous with many implicated genes, however, only a few of these genes are reported in African populations. METHODS: This study used exome and Sanger sequencing to resolve the possible genetic cause of non-syndromic HI in a Ghanaian family. RESULTS: We identified a novel variant c.3041G > A: p.(Gly1014Glu) in GREB1L (DFNA80) in the index case. The...

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PMID: 36357908
DOI: 10.1186/s12920-022-01391-w
PMCID: PMC9648021

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