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

Autor:	Kang Chen, Zhan Zhang, Linlin Zhang, Weifang Tian, Ying Li, Yajuan Xu, Yuehua Liu, Pingping Liu, Jinshuang Gao, Haiyang Yu, Genxia Li
Rok vydání:	2021
Předmět:	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)
Zdroj:	Molecular Syndromology. 12:244-249
ISSN:	1661-8777 1661-8769
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::8d875dd0d51b9d5439a276bfc3016530 https://doi.org/10.1159/000513607 Zobrazit plný text záznamu