A Novel SOX10 Mutation in a Patient with Kallmann an Waardenburg Syndrome Type II: A Case Report

Abstract

Introduction: Waardenburg syndrome (WS) is a disease characterized by congenital sensorineural hearing loss and pigmentary abnormalities, including hair and irises. Kallmann syndrome (KS) involves idiopathic hypogonadotropic hypogonadism (IHH) with anosmia. Certain SOX10 mutations were found in both WS and KS, suggesting SOX10 as their common pathogenic gene. Case Presentation: We report a 15-year-old male patient with congenital sensorineural hearing loss, pigmentary abnormalities (i.e., blue iris), hypogonadotropic hypogonadism (HH), and anosmia who was diagnosed with KS and WS type II. He carried a novel heterozygous in-frame deletion mutation (c.433_c.435delCTG, p.L145del) in the SOX10 gene, particularly within the critical high-mobility group (HMG) domain, which is predicted to disrupt protein structure and function. Conclusions: The cognizance of co-segregating phenotypes is crucial for timely diagnosis and management, reinforcing the need for comprehensive evaluation in patients with features of either syndrome. This topic warrants further investigation of mutations and phenotypes in SOX10.