Preprint Review Version 1 Preserved in Portico This version is not peer-reviewed

A Comprehensive Review on Inherited Sensorineural Hearing Loss and Their Syndromes

Version 1 : Received: 8 August 2020 / Approved: 14 August 2020 / Online: 14 August 2020 (04:45:23 CEST)

How to cite: Noman, M.; Anwer Bukhari, S.; Tahir, M.; Ali, S. A Comprehensive Review on Inherited Sensorineural Hearing Loss and Their Syndromes. Preprints 2020, 2020080308 (doi: 10.20944/preprints202008.0308.v1). Noman, M.; Anwer Bukhari, S.; Tahir, M.; Ali, S. A Comprehensive Review on Inherited Sensorineural Hearing Loss and Their Syndromes. Preprints 2020, 2020080308 (doi: 10.20944/preprints202008.0308.v1).

Abstract

Hearing impairment is an immensely diagnosed genetic cause, 5% of the total world population effects with different kind of congenital hearing loss (HL). In third-world countries or countries where consanguineous marriages are more common the frequency rate of genetic disorders are at its zenith. Approximately, the incidence of hearing afflictions is ostensibly 7-8:1000 individuals whereas it is estimated that about 466 million peoples suffer with significant HL, and of theses deaf cases 34 million are children’s up to March, 2020. Several genes and colossal numbers of pathogenic variants cause hearing impairment, which aided in next-generation with recessive, dominant or X-linked inheritance traits. This review highlights on syndromic and non-syndromic HL (SHL and NSHL), and categorized as conductive, sensorineural and mixed HL, which having autosomal dominant and recessive, and X-linked or mitochondrial mode of inheritance. Many hundred genes involved in HL are reported, and their mutation spectrum becomes very wide. Mapping of pathogenic genes in consanguinity family is facilitated to understand the disease history. Review presents the bases of HL and also focused on various genetic factors that cause deafness like the basics of genetic inheritance, and classic and well-characterized inherited factors of it. It also overviews the application of linkage analysis, SNPs genotyping and whole exome sequencing methods, in mapping and identification of new locus, causative genes and their variants in families inherited with HL. Conclusively, this review supports researchers in understanding the location of chromosome, the causative genes and specific locus which causing deafness in humans.

Subject Areas

Hereditary HL; genetics of syndromic and non-syndromic HL; methods for pathogenic locus/gene identification

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