SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa

SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa

Inherited hearing loss is extremely heterogeneous both clinically and genetically. In addition, the spectrum of deafness-causing genetic variants differs greatly among geographical areas and ethnicities. The identification of the causal mutation in affected families allows early diagnosis, clinical...

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Bibliographic Details
Main Authors: Chiara Chiereghin, Michela Robusto, Lucia Mauri, Paola Primignani, Pierangela Castorina, Umberto Ambrosetti, Stefano Duga, Rosanna Asselta, Giulia Soldà
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-02-01
Series:Frontiers in Genetics
Subjects:
non-syndromic sensorineural hearing loss
exome sequencing
SLC22A4
Northwest Africa
mutation
linkage analysis
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.606630/full

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https://www.frontiersin.org/articles/10.3389/fgene.2021.606630/full

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