A Novel Variant in Paired Box 3 Gene-related with Waardenburg Syndrome Type-1 in an Afghan Family
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Date
2022
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
Coll Physicians & Surgeons Pakistan
Access Rights
info:eu-repo/semantics/closedAccess
Abstract
Waardenburg 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.
Description
Keywords
Waardenburg syndrome, Congenital auditory-pigmentary syndrome, PAX3 gene
Journal or Series
Jcpsp-Journal of the College of Physicians And Surgeons Pakistan
WoS Q Value
Q4
Scopus Q Value
Volume
32
