%0 Case Reports
%T A Novel Frameshift Variant of the MITF Gene in a Chinese Family with Waardenburg Syndrome Type 2.
%A Li Y
%A Xu Y
%A Li G
%A Chen K
%A Yu H
%A Gao J
%A Tian W
%A Liu Y
%A Liu P
%A Zhang L
%A Zhang Z
%J Mol Syndromol
%V 12
%N 4
%D Jul 2021
%M 34421503
%F 1.494
%R 10.1159/000513607
%X Waardenburg syndrome (WS) is a rare genetic disorder characterized by varying combinations of sensorineural hearing loss and abnormal pigmentation involving the hair, skin and iris. WS is classified into 4 subtypes (WS1-WS4) based on additional symptoms. WS2 is characterized by the absence of additional symptoms and is mainly attributed to variants in the microphthalmia-associated transcription factor (MITF) gene. We detected a novel frameshift variant c.1025_1032delGGAACAAG (NM_198159) of MITF in 5 patients with WS2 from the same Chinese family by using targeted next-generation sequencing and Sanger sequencing. Phenotypic and genotypic analyses of the family members suggested that this novel variants was pathogenic. Our finding expands the spectrum of MITF variants.