A Novel Variant in Paired Box 3 Gene-related with Waardenburg Syndrome Type-1 in an Afghan Family

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dc.authorwosidEr, Recep/HFZ-9751-2022
dc.contributor.authorDoğan, Mustafa
dc.contributor.authorEröz, Recep
dc.date.accessioned2023-07-26T11:58:10Z
dc.date.available2023-07-26T11:58:10Z
dc.date.issued2022
dc.departmentDÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalıen_US
dc.description.abstractWaardenburg Syndrome (WS) is a congenital auditory-pigmentary syndrome. We, herein, present a case of a 1.5 year girl presenting with bilateral hearing impairment. Detailed examinations and molecular analyses of the proband and other family members were performed. A novel missense, heterozygous variant (c.253A>C (p.Lys85Gln)) was detected in the paired box 3 (PAX3) gene. For interpretation and classification of the variant, the American College of Medical Genetics and Genomics (ACMG) guideline was used. No previous report of this variant was found in the literature and we determined the variant according to the guide published in 2015 as `'likely pathogenic''. We think that the clinical and genetic characterisation of the current family will contribute to knowledge for a better understanding of the genetic background of the Afghan patients with WS.en_US
dc.identifier.doi10.29271/jcpsp.2022.Supp2.S110
dc.identifier.endpageS112en_US
dc.identifier.issn1022-386X
dc.identifier.issn1681-7168
dc.identifier.pmid36210664en_US
dc.identifier.scopus2-s2.0-85139418481en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpageS110en_US
dc.identifier.urihttps://doi.org/10.29271/jcpsp.2022.Supp2.S110
dc.identifier.urihttps://hdl.handle.net/20.500.12684/13419
dc.identifier.volume32en_US
dc.identifier.wosWOS:000880579900001en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.indekslendigikaynakScopusen_US
dc.institutionauthorEröz, Recep
dc.language.isoenen_US
dc.publisherColl Physicians & Surgeons Pakistanen_US
dc.relation.ispartofJcpsp-Journal of The College of Physicians and Surgeons Pakistanen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.snmz$2023V1Guncelleme$en_US
dc.subjectWaardenburg Syndrome; Congenital Auditory-Pigmentary Syndrome; Pax3 Geneen_US
dc.titleA Novel Variant in Paired Box 3 Gene-related with Waardenburg Syndrome Type-1 in an Afghan Familyen_US
dc.typeArticleen_US

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