{Reference Type}: Case Reports
{Title}: Case report of a novel mutation in the TNC gene in Chinese patients with nonsyndromic hearing loss.
{Author}: Li S;Li S;Chen D;Zhao S;Liu C;Zhang R;Chen Y;Guo X;Song X;
{Journal}: Medicine (Baltimore)
{Volume}: 103
{Issue}: 16
{Year}: 2024 Apr 19
{Factor}: 1.817
{DOI}: 10.1097/MD.0000000000037702
{Abstract}: <B>BACKGROUND: </B>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).<BR><B>METHODS: </B>This includes a young deaf couple and their 2-year-old baby.<BR><B>METHODS: </B>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.2852C>T, p.Thr951Ile) and the TBC1 domain family member 24 (TBC1D24) gene (c.1570C>T, p.Arg524Trp). These mutations may be responsible for the hearing loss observed in this family. Notably, the heterozygous mutations in the TNC gene (c.2852C>T, p.Thr951Ile) have not been previously reported in the literature.<BR><B>METHODS: </B>Avoid taking drugs that can cause deafness, wearing hearing AIDS, and cochlear implants.<BR><B>RESULTS: </B>Regular follow-up of family members is ongoing.<BR><B>CONCLUSIONS: </B>The genetic diagnosis of NSHL holds significant importance as it helps in making informed treatment decisions, providing prognostic information, and offering genetic counseling for the patient's family.