Molecular genetic landscape of hereditary hearing loss in Pakistan

Approximately 14.5 million Pakistani individuals have a hearing loss and half of these cases may be due to genetic causes. Though significant progress has been made in uncovering genetic variants for recessively inherited nonsyndromic deafness, Pendred syndrome, and Usher syndromes, the same is not...

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Bibliographic Details
Published in:Human genetics 2022-04, Vol.141 (3-4), p.633-648
Main Author: Naz, Sadaf
Format: Article
Language:English
Subjects:
Biomedical and Life Sciences
Biomedicine
Deafness
Gene Function
Genetic aspects
Genetic counseling
Genetic diversity
Genetic research
Hearing loss
Heredity
Human Genetics
Medical genetics
Metabolic Diseases
Minority & ethnic groups
Molecular Medicine
Mutation
Review
The Molecular Genetics of Hearing and Deafness
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Summary:Approximately 14.5 million Pakistani individuals have a hearing loss and half of these cases may be due to genetic causes. Though significant progress has been made in uncovering genetic variants for recessively inherited nonsyndromic deafness, Pendred syndrome, and Usher syndromes, the same is not true for dominantly inherited hearing loss, most syndromic cases and deafness with complex inheritance patterns. Variants of 57 genes have been reported to cause nonsyndromic recessive deafness in Pakistan, though most are rare. Variants of just five genes GJB2 , HGF , MYO7A, SLC26A4 , and TMC1 together explain 57% of profound deafness while those of GJB2 , MYO15A, OTOF , SLC26A4, TMC1 , and TMPRSS3 account for 47% of moderate to severe hearing loss. In contrast, although variants of at least 39 genes have been implicated in different deafness syndromes, their prevalence in the population and the spectrum of mutations have not been explored. Furthermore, research on genetics of deafness has mostly focused on individuals from the Punjab province and needs to be extended to other regions of Pakistan. Identifying the genes and their variants causing deafness in all ethnic groups is important as it will pinpoint rare as well as recurrent mutations. This information may ultimately help in offering genetic counseling and future treatments.
ISSN:0340-6717
1432-1203
DOI:10.1007/s00439-021-02320-0