Waardenburg Syndrome Type 4 in Mongolian Children: Genetic and Clinical Characterization.
Journal
International journal of molecular sciences
Journal Volume
26
Journal Issue
13
Start Page
Article number 6258
ISSN
1422-0067
Date Issued
2025-06-28
Author(s)
Gombojav, Bayasgalan
Erdenechuluun, Jargalkhuu
Batsaikhan, Tserendulam
Danshiitsoodol, Narandalai
Makhbal, Zaya
Jargalmaa, Maralgoo
Jargalkhuu, Tuvshinbayar
Lu, Yue-Sheng
Tsai, Cheng-Yu
Abstract
Waardenburg syndrome (WS) is a rare genetic disorder that affects both hearing and pigmentation. The wide divergence of WS poses significant diagnostic and management challenges. This study investigated type 4 WS within an underrepresented Mongolian population. Whole-exome sequencing revealed that two unique heterozygous variants were identified in the gene: c.393C>G (p.Asn131Lys) in a five-year-old female patient presenting with profound sensorineural hearing loss (SNHL), dystopia canthorum, and a white forelock; and c.535A>T (p.Lys179Ter) in a nine-year-old male patient presenting with profound SNHL, dystopia canthorum, and Hirschsprung's disease. Temporal bone imaging revealed abnormalities in the inner ear structure in both patients. The genotypic and phenotypic characteristics were meticulously delineated, incorporating the deleterious effects of these variants, as evaluated by multiple predictive tools and the American College of Medical Genetics and Genomics (ACMG) criteria. In addition, structural characterizations were also presented using AlphaFold. The findings of this study contribute valuable genetic data to the limited literature on type 4 WS within this ethnic group and highlight the importance of genetic testing and multidisciplinary care for this rare disorder in settings with limited resources.
Subjects
Hirschsprung’s disease
Mongolian population
SOX10 variant
Waardenburg syndrome
de novo variant
sensorineural hearing loss
SDGs
Publisher
Multidisciplinary Digital Publishing Institute (MDPI)
Type
journal article