A Novel Frameshift Variant of the MITF Gene in a Chinese Family with Waardenburg Syndrome Type 2,Molecular Syndromology

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A Novel Frameshift Variant of the MITF Gene in a Chinese Family with Waardenburg Syndrome Type 2
Molecular Syndromology ( IF 1.1 ) Pub Date : 2021-06-14 , DOI: 10.1159/000513607
Ying Li ₁ , Yajuan Xu ₂ , Genxia Li ₂ , Kang Chen _{3,

4,

5} , Haiyang Yu ₁ , Jinshuang Gao ₁ , Weifang Tian ₁ , Yuehua Liu ₂ , Pingping Liu ₂ , Linlin Zhang ₁ , Zhan Zhang ₁

Affiliation

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.
Mol Syndromol

更新日期：2021-06-14

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