A Novel Frameshift Variant of the MITF Gene in a Chinese Family with Waardenburg Syndrome Type 2-Reference-Cited by-同舟云学术

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

Published:2021 Issue:4 Volume:12 Page:244-249
ISSN:1661-8769
Container-title:Molecular Syndromology
language:en
Short-container-title:Mol Syndromol

Author:

Li Ying,Xu Yajuan,Li Genxia^ORCID,Chen Kang,Yu Haiyang,Gao Jinshuang,Tian Weifang,Liu Yuehua,Liu Pingping,Zhang Linlin,Zhang Zhan

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.

Publisher

S. Karger AG

Subject

Genetics(clinical),Genetics

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