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 - August 10, 2018 Category: ENT & OMF Authors: Mohammad Saberi, Zahra Golchehre, Hamzeh Salmani, Arezou Karamzade, Seyed Ziaeddin Tabatabaie, Mohammad Keramatipour Source Type: research