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MITF Is Mutated in Type 1 Waardenburg Syndrome With Unusual Phenotype

Wu Li^1,2,3, Yong Feng^1,3, Hongsheng Chen^1,3

¹Department of Otolaryngology, Xiangya Hospital.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology

|August 3, 2020

Abstract

Background:

Waardenburg syndrome (WS) is a rare disorder characterized by varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair and skin. WS is classified into four subtypes (WS1-WS4) based on additional symptoms. Dystopia canthorum is a hallmark of WS type 1. There are two genes linked to WS type 1, including PAX3 and EDNRB.

Objective:

This study aimed to investigate the genetic etiology of WS type 1 in a pair of twins from China with profound hearing loss, blond hair and eyebrows, dystopia canthorum, and brown irides.

Methods:

The target capture sequencing and Whole-exome sequencing were performed to detect mutations in WS-related genes.

Results:

A novel de novo frameshift mutation, p.L341Rfs*18 in MITF was identified in the twins. Hearing thresholds showed substantial improvements following cochlear implantation with a pure-tone average of 30 dB in free-field conditions.

Conclusions:

The study showed the new genotype-phenotype correlations of MITF to WS type 1. Further molecular analysis is necessary to reappraise the current classification on WS.

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