A Case of Waardenburg Syndrome Type 1 with Maturity-onset Diabetes of The Young Type 2
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Case report

A Case of Waardenburg Syndrome Type 1 with Maturity-onset Diabetes of The Young Type 2

J Behcet Uz Child Hosp 2023;13(2):139-141 DOI: 10.4274/buchd.galenos.2023.29863
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Abstract

Waardenburg syndrome (WS) is known as a group of genetic conditions associated with hearing problems and pigmentary abnormalities of the hair, skin, and eyes. The association between WS and maturity-onset diabetes of the young (MODY) is rarely reported. Herein we present a 9-year-old male patient with MODY type 2 and WS whose genetic analysis revealed a known pathogenic variant i.e. c.143G>A (p.Gly48Asp)(c.1603+2T>C) in paired box gene 3.

Keywords: Waardenburg syndrome, glucokinase gene mutation, diabetes mellitus