MITF Is Mutated in Type 1 Waardenburg Syndrome With Unusual Phenotype

Wu Li, Yong Feng, Hongsheng Chen, Chufeng He, Lingyun Mei, Xue Zhong Liu, Meichao Men

Research output: Contribution to journalArticlepeer-review


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.

ASJC Scopus subject areas

  • Otorhinolaryngology
  • Sensory Systems
  • Clinical Neurology


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