PDF(Pubmed)
Abstract：
BACKGROUND: 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).
METHODS: This includes a young deaf couple and their 2-year-old baby.
METHODS: 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.
METHODS: Avoid taking drugs that can cause deafness, wearing hearing AIDS, and cochlear implants.
RESULTS: Regular follow-up of family members is ongoing.
CONCLUSIONS: 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.
METHODS: This includes a young deaf couple and their 2-year-old baby.
METHODS: 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.
METHODS: Avoid taking drugs that can cause deafness, wearing hearing AIDS, and cochlear implants.
RESULTS: Regular follow-up of family members is ongoing.
CONCLUSIONS: 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.
摘要：
背景：已知遗传性听力损失表现出显著程度的遗传异质性。在这里，我们报道了一例中国非综合征性听力损失(NSHL)患者生腱蛋白-C(TNC)基因新突变的病例.
方法：这包括一对年轻的聋哑夫妇和他们2岁的婴儿。
方法：根据临床信息，听力测试,宏基因组下一代测序（mNGS），桑格测序,蛋白质功能和结构分析，和模型预测，在我们的案例中,研究结果显示TNC基因有2个杂合突变(c.2852C>T，p.Thr951Ile）和TBC1结构域家族成员24（TBC1D24）基因（c.1570C>T，p.Arg524Trp)。这些突变可能是该家族中观察到的听力损失的原因。值得注意的是,TNC基因的杂合突变(c.2852C>T，p.Thr951Ile)以前没有文献报道。
方法：避免服用可能导致耳聋的药物，戴助听器,和人工耳蜗.
结果：正在对家庭成员进行定期随访。
结论：NSHL的基因诊断具有重要意义，因为它有助于做出明智的治疗决定。提供预后信息，并为患者家属提供遗传咨询。
方法：这包括一对年轻的聋哑夫妇和他们2岁的婴儿。
方法：根据临床信息，听力测试,宏基因组下一代测序（mNGS），桑格测序,蛋白质功能和结构分析，和模型预测，在我们的案例中,研究结果显示TNC基因有2个杂合突变(c.2852C>T，p.Thr951Ile）和TBC1结构域家族成员24（TBC1D24）基因（c.1570C>T，p.Arg524Trp)。这些突变可能是该家族中观察到的听力损失的原因。值得注意的是,TNC基因的杂合突变(c.2852C>T，p.Thr951Ile)以前没有文献报道。
方法：避免服用可能导致耳聋的药物，戴助听器,和人工耳蜗.
结果：正在对家庭成员进行定期随访。
结论：NSHL的基因诊断具有重要意义，因为它有助于做出明智的治疗决定。提供预后信息，并为患者家属提供遗传咨询。
