First Report of Klein-Waardenburg Syndrome in Iran and a Novel Pathogenic Splice Site Variant in PAX3 Gene

Waardenburg Syndrome (WS) as a congenital auditory-pigmentary syndrome is a clinically and genetically heterogeneous disorder. Based upon clinical manifestations, it can be classified into four types. Loss of function mutations in PAX3 gene cause WS1 and WS3 (Klein-Waardenburg syndrome). While WS2 and WS4 have locus heterogeneity with multiple causative genes. Here we report a novel splice site variant in a pedigree with multiple affected members. Based on diagnostic criteria, three of them are associated with WS3.
Source: International Journal of Pediatric Otorhinolaryngology - Category: ENT & OMF Authors: Source Type: research

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