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

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dc.authoridDOĞAN, Mustafa/0000-0001-7237-9847;en_US
dc.authorwosidDOĞAN, Mustafa/N-9819-2019en_US
dc.authorwosidDOĞAN, Mustafa/C-2642-2014en_US
dc.authorwosidEroz, Recep/HFZ-9751-2022en_US
dc.contributor.authorDogan, Mustafa
dc.contributor.authorEroz, Recep
dc.date.accessioned2024-08-23T16:03:40Z
dc.date.available2024-08-23T16:03:40Z
dc.date.issued2022en_US
dc.departmentDüzce Üniversitesien_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.JCPSPCR.CR110
dc.identifier.endpage112en_US
dc.identifier.issn1022-386X
dc.identifier.issn1681-7168
dc.identifier.startpage110en_US
dc.identifier.urihttps://doi.org/10.29271/jcpsp.2022.JCPSPCR.CR110
dc.identifier.urihttps://hdl.handle.net/20.500.12684/13860
dc.identifier.volume32en_US
dc.identifier.wosWOS:001018060400001en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
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/closedAccessen_US
dc.subjectWaardenburg syndromeen_US
dc.subjectCongenital auditory-pigmentary syndromeen_US
dc.subjectPAX3 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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