J Behcet Uz Child Hosp. 2023; 13(2): 139-141 | DOI: 10.4274/buchd.galenos.2023.29863
A Case of Waardenburg Syndrome Type 1 with Maturity-onset Diabetes of The Young Type 2 Hüseyin Anıl Korkmaz1, Leyla Özer2, Behzat Özkan1 1University of Health Sciences Turkey, Dr. Behçet Uz Pediatric Diseases and Surgery Training and Research Hospital, Clinic of Pediatrics, Division of Pediatric Endocrinology, İzmir, Turkey 2Yüksek İhtisas University Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey 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 MODY Tip 2’nin Eşlik Ettiği Waardenburg Sendromu Tip 1 Olgusu Hüseyin Anıl Korkmaz1, Leyla Özer2, Behzat Özkan1 1Dr. Behçet Uz Çocuk Hastalıkları Ve Cerrahisi Eğitim Ve Araştırma Hastanesi, Pediatri Endokrinoloji Bolumu 2Yüksek İhtisas Üniversitesi Tıp Fakültesi, Tıbbi Genetik Anabilim Dalı, Ankara, Türkiye. Waardenburg sendromu (WS), işitme kaybı ile saç, deri ve gözlerdeki pigment anormallikleri ile ilişkili bir grup genetik hastalık olarak bilinir. WS ile gençlerin olgunluk başlangıçlı diyabeti (MODY) arasındaki ilişki nadiren bildirilmektedir. Bu calışmada, genetik analizi sonucu paired box gene 3’te patojenik varyantı c.143G>A’yı (p.Gly48Asp)(c.1603+2T>C) saptanan MODY tip 2’nin eşlik ettigi WS’li 9 yaşında bir erkek hasta sunulmaktadır. Anahtar Kelimeler: Waardenburg sendromu, glukokinaz gen mutasyonu, diabetes mellitus Hüseyin Anıl Korkmaz, Leyla Özer, Behzat Özkan. 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 Corresponding Author: Hüseyin Anıl Korkmaz, Türkiye	TOOLS Full Text PDF Print Download citation RIS EndNote BibTex Medlars Procite Reference Manager Share with email Share Send email to author Similar articles PubMed Google Scholar  (33 accesses)  (276 downloaded)

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