{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T17:45:07Z","timestamp":1770831907724,"version":"3.50.1"},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,4,28]],"date-time":"2021-04-28T00:00:00Z","timestamp":1619568000000},"content-version":"vor","delay-in-days":117,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["R01DC016295"],"award-info":[{"award-number":["R01DC016295"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["R56DC011803"],"award-info":[{"award-number":["R56DC011803"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:p>The inner ear is an essential part of a well\u2010developed and well\u2010coordinated hearing system. However, hearing loss can make communication and interaction more difficult. Inherited hearing loss (HL) can occur from pathogenic genetic variants that negatively alter the intricate inner ear sensory mechanism. Recessively inherited forms of HL are highly heterogeneous and account for a majority of prelingual deafness. The current study is designed to investigate genetic causes of HL in three consanguineous Pakistani families. After IRB approval, the clinical history and pure tone audiometric data was obtained for the clinical diagnosis of HL segregating in these three Pakistani families. We performed whole exome sequencing (WES) followed by Sanger sequencing in order to identify and validate the HL\u2010associated pathogenic variants, respectively. The 3\u2010D molecular modeling and the Ramachandran analysis of the identified missense variants were compiled to evaluate the impact of the variants on the encoded proteins. Clinical evaluation revealed prelingual severe to profound sensorineural HL segregating among the affected individuals in all three families. Genetic analysis revealed segregation of several novel variants associated with HL, including a canonical splice\u2010site variant (c.55\u20102A&gt;G) of <jats:italic>PTPRQ<\/jats:italic> in family GCFHL\u201001, a missense variant [c.1079G&gt;A; p.(Arg360Gln)] of <jats:italic>SERPINB6<\/jats:italic> in family LUHL\u201001, and an insertion variant (c.10208\u201010211insCCACCAGGCCCGTGCCTC) within <jats:italic>MYO15A<\/jats:italic> in family LUHL\u2010011. All the identified variants had very low frequencies in the control databases. The molecular modeling of p.Arg360Gln missense variant also predicted impaired folding of SERPINB6 protein. This study reports the identification of novel disease\u2010causing variants in three known deafness genes and further highlights the genetic heterogeneity of HL in Pakistani population.<\/jats:p>","DOI":"10.1155\/2021\/5584788","type":"journal-article","created":{"date-parts":[[2021,4,28]],"date-time":"2021-04-28T17:15:15Z","timestamp":1619630115000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["[Retracted] Identification of Hearing Loss\u2010Associated Variants of PTPRQ, MYO15A, and SERPINB6 in Pakistani Families"],"prefix":"10.1155","volume":"2021","author":[{"given":"Umair","family":"Mahmood","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9318-9364","authenticated-orcid":false,"given":"Shazia A.","family":"Bukhari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Ali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zubair M.","family":"Ahmed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8645-4761","authenticated-orcid":false,"given":"Saima","family":"Riazuddin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,4,28]]},"reference":[{"key":"e_1_2_10_1_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.285.5.540"},{"key":"e_1_2_10_2_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0043-121595"},{"key":"e_1_2_10_3_2","doi-asserted-by":"crossref","unstructured":"NomanM. BukhariS. A. TahirM. andAliS. A Comprehensive Review on Inherited Sensorineural Hearing Loss and their Syndromes 2020 https:\/\/doi.org\/10.20944\/preprints202008.0308.v1.","DOI":"10.20944\/preprints202008.0308.v1"},{"key":"e_1_2_10_4_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes10121031"},{"key":"e_1_2_10_5_2","doi-asserted-by":"publisher","DOI":"10.1159\/000091090"},{"key":"e_1_2_10_6_2","doi-asserted-by":"publisher","DOI":"10.1017\/S0022215113003265"},{"key":"e_1_2_10_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.heares.2011.05.021"},{"key":"e_1_2_10_8_2","unstructured":"Van CampG.andSmithR. J. The Hereditary Hearing Loss Homepage Definitions Protocols and Guidelines in Genetic Hearing Impairment 2006."},{"key":"e_1_2_10_9_2","doi-asserted-by":"publisher","DOI":"10.1080\/03014460.2016.1265148"},{"key":"e_1_2_10_10_2","article-title":"Paediatric hearing loss in rural Pakistan","volume":"27","author":"Elahi M. 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