Central Laboratory, Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha, China.
Central Laboratory, Changsha Hospital for Maternal and Child Health Care Affiliated to Hunan Normal University, Changsha, China.
Medicine (Baltimore). 2024 Jul 26;103(30):e39048. doi: 10.1097/MD.0000000000039048.
THOC1 mutation causes Deafness, autosomal dominant 86 [OMIM: 620280]. However, it has not been reported whether deletion of the THOC1 gene causes deafness.
Here, we report a 1-year-old girl with clinical features including Hypotonia, unilateral deafness in the right ear, and widening of lateral ventricles in 6 months. Gene mutations were identified by whole-exome sequencing.
Through whole-exome sequencing, a deletion of 18p11.32-p11.21 contains the deletion of all THOC1 genes found in the patient but not in her parents' genomic DNA. The ClinGen Database Haplodose Insufficiency (HI) prediction tool determined that HI, THOC1 HI may cause unilateral deafness. Moreover, after 6 months of rehabilitation training, muscle tone returned to normal. However, at the age of 1 year, the patient developed symptoms of a large liver and hamartoma of both kidneys.
From the above results, we propose that in our patient, THOC1 HI may cause unilateral deafness. Therefore, this study provides a new THOC1 deletion associated with unilateral deafness.
THOC1 突变导致常染色体显性遗传 86 型耳聋[OMIM:620280]。然而，尚未有报道表明 THOC1 基因缺失是否会导致耳聋。
本研究报告了一例 1 岁女孩，其临床特征包括肌张力低下、右侧耳单侧耳聋和 6 个月时侧脑室增宽。通过全外显子组测序鉴定基因突变。
通过全外显子组测序，发现患者基因组 DNA 中 18p11.32-p11.21 缺失，包含所有 THOC1 基因缺失，但患者父母的基因组 DNA 中未发现缺失。ClinGen 数据库杂合不足（HI）预测工具确定 HI、THOC1 HI 可能导致单侧耳聋。此外，经过 6 个月的康复训练，肌肉张力恢复正常。然而，在 1 岁时，患者出现肝脏肿大和双侧肾脏错构瘤的症状。
综上，我们提出 THOC1 HI 可能导致患者单侧耳聋。因此，本研究提供了一个与单侧耳聋相关的新的 THOC1 缺失。
