Leveraging human-mouse studies to advance the genetics of hearing impairment in Africa.

J Gene Med

Department of Pathology, Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.

Published: July 2024

AI Article Synopsis

  • - The review discusses the use of genetic mouse models to find genetic markers for hearing impairment (HI) and how these markers can help identify similar genes in humans.
  • - It highlights the lack of knowledge about the prevalence of HI-causing genes in Africa and suggests that pre-screening mouse cell lines could significantly improve genetic diagnosis in the region.
  • - By utilizing various genetic and molecular approaches, the study aims to understand the inheritance patterns of HI genes, especially when large families for study are unavailable.

Article Abstract

Mouse models are used extensively to understand human pathobiology and mechanistic functions of disease-associated loci. However, in this review, we investigate the potential of using genetic mouse models to identify genetic markers that can disrupt hearing thresholds in mice and then target the hearing-enriched orthologues and loci in humans. Currently, little is known about the real prevalence of genes that cause hearing impairment (HI) in Africa. Pre-screening mouse cell lines to identify orthologues of interest has the potential to improve the genetic diagnosis for HI in Africa to a significant percentage, for example, 10-20%. Furthermore, the functionality of a candidate gene derived from mouse screening with heterogeneous genetic backgrounds and multi-omic approaches can shed light on the molecular, genetic heterogeneity and plausible mode of inheritance of a gene in hearing-impaired individuals especially in the absence of large families to investigate.

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http://dx.doi.org/10.1002/jgm.3714DOI Listing

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