Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation.

ABSTRACT:

Background

The characteristics of Waardenburg syndrome (WS) as a scarce heritable disorder are sensorineural hearing loss and deficits of pigmentation in the skin, hair, and eye. Here, clinical features and detection of the mutation in the MITF gene of WS2 patients are reported in a sizable Iranian family.

Methods

A man aged 28-years represented with symptoms of mild unilateral hearing loss (right ear), complete heterochromia iridis, premature graying prior to 30 years of age, and synophrys. In this research, there was a sizable family in Iran comprising three generations with seven WS patients and two healthy members. Whole exome sequencing was applied for proband for the identification of the candidate genetic mutations associated with the disease. The detected mutation in

SUBMITTER: Zardadi S 

PROVIDER: S-EPMC8451132 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature