Autosomal recessive non‐syndromic hearing loss genes in Pakistan during the previous three decades
<p dir="ltr">Hearing loss is a clinically and genetically heterogeneous disorder, with over 148 genes and 170 loci associated with its pathogenesis. The spectrum and frequency of causal variants vary across different genetic ancestries and are more prevalent in populations that pract...
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| المؤلف الرئيسي: | |
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| مؤلفون آخرون: | , , , , , |
| منشور في: |
2024
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| _version_ | 1864513509764628480 |
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| author | Madiha Shadab (19273891) |
| author2 | Ansar Ahmed Abbasi (19273894) Ahsan Ejaz (19273897) Afif Ben‐Mahmoud (19273900) Vijay Gupta (209146) Hyung‐Goo Kim (14776987) Barbara Vona (5237843) |
| author2_role | author author author author author author |
| author_facet | Madiha Shadab (19273891) Ansar Ahmed Abbasi (19273894) Ahsan Ejaz (19273897) Afif Ben‐Mahmoud (19273900) Vijay Gupta (209146) Hyung‐Goo Kim (14776987) Barbara Vona (5237843) |
| author_role | author |
| dc.creator.none.fl_str_mv | Madiha Shadab (19273891) Ansar Ahmed Abbasi (19273894) Ahsan Ejaz (19273897) Afif Ben‐Mahmoud (19273900) Vijay Gupta (209146) Hyung‐Goo Kim (14776987) Barbara Vona (5237843) |
| dc.date.none.fl_str_mv | 2024-03-27T09:00:00Z |
| dc.identifier.none.fl_str_mv | 10.1111/jcmm.18119 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Autosomal_recessive_non_syndromic_hearing_loss_genes_in_Pakistan_during_the_previous_three_decades/26421721 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences genetic counselling genetic epidemiology genotype non-syndromic hearing loss Pakistanipopulation phenotype |
| dc.title.none.fl_str_mv | Autosomal recessive non‐syndromic hearing loss genes in Pakistan during the previous three decades |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <p dir="ltr">Hearing loss is a clinically and genetically heterogeneous disorder, with over 148 genes and 170 loci associated with its pathogenesis. The spectrum and frequency of causal variants vary across different genetic ancestries and are more prevalent in populations that practice consanguineous marriages. Pakistan has a rich history of autosomal recessive gene discovery related to non‐syndromic hearing loss. Since the first linkage analysis with a Pakistani family that led to the mapping of the DFNB1 locus on chromosome 13, 51 genes associated with this disorder have been identified in this population. Among these, 13 of the most prevalent genes, namely <i>CDH23, CIB2, CLDN14, GJB2, HGF, MARVELD2, MYO7A, MYO15A, MSRB3, OTOF, SLC26A4, TMC1 </i>and <i>TMPRSS3</i>, account for more than half of all cases of profound hearing loss, while the prevalence of other genes is less than 2% individually. In this review, we discuss the most common autosomal recessive non‐syndromic hearing loss genes in Pakistani individuals as well as the genetic mapping and sequencing approaches used to discover them. Furthermore, we identified enriched gene ontology terms and common pathways involved in these 51 autosomal recessive non‐syndromic hearing loss genes to gain a better understanding of the underlying mechanisms. Establishing a molecular understanding of the disorder may aid in reducing its future prevalence by enabling timely diagnostics and genetic counselling, leading to more effective clinical management and treatments of hearing loss.</p><h2>Other Information</h2><p dir="ltr">Published in: Journal of Cellular and Molecular Medicine<br>License: <a href="http://creativecommons.org/licenses/by/4.0/" target="_blank">http://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1111/jcmm.18119" target="_blank">https://dx.doi.org/10.1111/jcmm.18119</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_992f0f9a069ae94a5d09a103650cbe77 |
| identifier_str_mv | 10.1111/jcmm.18119 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/26421721 |
| publishDate | 2024 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Autosomal recessive non‐syndromic hearing loss genes in Pakistan during the previous three decadesMadiha Shadab (19273891)Ansar Ahmed Abbasi (19273894)Ahsan Ejaz (19273897)Afif Ben‐Mahmoud (19273900)Vijay Gupta (209146)Hyung‐Goo Kim (14776987)Barbara Vona (5237843)Biological sciencesGeneticsBiomedical and clinical sciencesClinical sciencesgenetic counsellinggenetic epidemiologygenotypenon-syndromic hearing lossPakistanipopulationphenotype<p dir="ltr">Hearing loss is a clinically and genetically heterogeneous disorder, with over 148 genes and 170 loci associated with its pathogenesis. The spectrum and frequency of causal variants vary across different genetic ancestries and are more prevalent in populations that practice consanguineous marriages. Pakistan has a rich history of autosomal recessive gene discovery related to non‐syndromic hearing loss. Since the first linkage analysis with a Pakistani family that led to the mapping of the DFNB1 locus on chromosome 13, 51 genes associated with this disorder have been identified in this population. Among these, 13 of the most prevalent genes, namely <i>CDH23, CIB2, CLDN14, GJB2, HGF, MARVELD2, MYO7A, MYO15A, MSRB3, OTOF, SLC26A4, TMC1 </i>and <i>TMPRSS3</i>, account for more than half of all cases of profound hearing loss, while the prevalence of other genes is less than 2% individually. In this review, we discuss the most common autosomal recessive non‐syndromic hearing loss genes in Pakistani individuals as well as the genetic mapping and sequencing approaches used to discover them. Furthermore, we identified enriched gene ontology terms and common pathways involved in these 51 autosomal recessive non‐syndromic hearing loss genes to gain a better understanding of the underlying mechanisms. Establishing a molecular understanding of the disorder may aid in reducing its future prevalence by enabling timely diagnostics and genetic counselling, leading to more effective clinical management and treatments of hearing loss.</p><h2>Other Information</h2><p dir="ltr">Published in: Journal of Cellular and Molecular Medicine<br>License: <a href="http://creativecommons.org/licenses/by/4.0/" target="_blank">http://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1111/jcmm.18119" target="_blank">https://dx.doi.org/10.1111/jcmm.18119</a></p>2024-03-27T09:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1111/jcmm.18119https://figshare.com/articles/journal_contribution/Autosomal_recessive_non_syndromic_hearing_loss_genes_in_Pakistan_during_the_previous_three_decades/26421721CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/264217212024-03-27T09:00:00Z |
| spellingShingle | Autosomal recessive non‐syndromic hearing loss genes in Pakistan during the previous three decades Madiha Shadab (19273891) Biological sciences Genetics Biomedical and clinical sciences Clinical sciences genetic counselling genetic epidemiology genotype non-syndromic hearing loss Pakistanipopulation phenotype |
| status_str | publishedVersion |
| title | Autosomal recessive non‐syndromic hearing loss genes in Pakistan during the previous three decades |
| title_full | Autosomal recessive non‐syndromic hearing loss genes in Pakistan during the previous three decades |
| title_fullStr | Autosomal recessive non‐syndromic hearing loss genes in Pakistan during the previous three decades |
| title_full_unstemmed | Autosomal recessive non‐syndromic hearing loss genes in Pakistan during the previous three decades |
| title_short | Autosomal recessive non‐syndromic hearing loss genes in Pakistan during the previous three decades |
| title_sort | Autosomal recessive non‐syndromic hearing loss genes in Pakistan during the previous three decades |
| topic | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences genetic counselling genetic epidemiology genotype non-syndromic hearing loss Pakistanipopulation phenotype |