• Mustafa Dogan and Recep Eroz.
• Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey.
• J Coll Physicians Surg Pak. 2022 Aug 1; 32 (8): S110-S112.

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 paıred 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. Key Words: Waardenburg syndrome, Congenital auditory-pigmentary syndrome, PAX3 gene.

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