1. A Novel Frameshift Variant of the MITF Gene in a Chinese Family with Waardenburg Syndrome Type 2
- Author
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Kang Chen, Zhan Zhang, Linlin Zhang, Weifang Tian, Ying Li, Yajuan Xu, Yuehua Liu, Pingping Liu, Jinshuang Gao, Haiyang Yu, and Genxia Li
- Subjects
Sanger sequencing ,Genetics ,integumentary system ,Waardenburg syndrome ,Genetic disorder ,Biology ,medicine.disease ,Microphthalmia-associated transcription factor ,Frameshift mutation ,symbols.namesake ,Genotype ,medicine ,symbols ,Sensorineural hearing loss ,Gene ,Genetics (clinical) - Abstract
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.
- Published
- 2021