SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: a clue for phenotype-directed genetic analysis

Waardenburg syndrome (WS) is a neurocristopathy characterized by hearing impairment and pigmentary disturbances in hair, eyes, and skin. WS is clinically heterogeneous and can be subdivided into four major types (WS1–WS4) where WS4 or Shah–Waardenburg is diagnosed when WS2 is accompanied by Hirschsprung disease (HD). Mutations of SOX10, EDN3/EDNRB have been identified in association with WS4. This study was aimed to determine the pathogenic variant in an Iranian pedigree affected with WS4.

http://ift.tt/2nprFi7