Shouxia Li, Shurui Li, Dingli Chen, Subin Zhao, Cairu Liu, Ruimin Zhang, Yongxue Chen, Xiangrui Guo, Xuedong Song
RATIONALE: Hereditary hearing loss is known to exhibit a significant degree of genetic heterogeneity. Herein, we present a case report of a novel mutation in the tenascin-C (TNC) gene in Chinese patients with nonsyndromic hearing loss (NSHL). PATIENT CONCERNS: This includes a young deaf couple and their 2-year-old baby. DIAGNOSES: Based on the clinical information, hearing test, metagenomic next-generation sequencing (mNGS), Sanger sequencing, protein function and structure analysis, and model prediction, in our case, the study results revealed 2 heterozygous mutations in the TNC gene (c...
April 19, 2024: Medicine (Baltimore)