新发现#br# TSC1#br# 基因杂合错义突变 c.T1967C 致结节性硬化症的 1 例散发病例
A sporadic case of tuberous sclerosis complex caused by a newly found heterozygous missense mutation of c.T1967C in TSC1 gene

报道 1 例通过第 2 代高通量基因检测技术诊断为结节性硬化症的 29 岁中国汉族女性散发病例。该患者因反复癫痫发作 26 年， 头晕头痛 3 个月入院；查体可见面部弥漫性血管纤维瘤、腰背部散在鲨鱼皮样斑块、躯干四肢散在色素减退斑片；头颅磁共振见病灶 累及侧脑室、小脑蚓部、左侧颞叶，伴两侧广泛脑皮质异常信号改变。基因测序发现该患者 TSC1 基因 16 号外显子 c.T1967C 杂合错 义突变，且此突变位点为一新发现致病性突变位点。
： This paper reported a sporadic case of a 29-year-old Han female diagnosed with tuberous sclerosis complex (TSC) by next generation sequencing (NGS), one of genetic analysis techniques. She was admitted because of recurrent intractable seizure for 26 years, dizziness and headache for 3 months. Physical examination revealed angiofibromas over her face, shagreen patches in her lower back area, and hypomelanotic macules around her limbs and body. Cranial MRI manifested lesions on lateral ventricles, cerebellar vermis and left temporal lobe with abnormal signal changes on both sides of extensive cerebral cortex. A pathogenic and heterozygous missense mutation, c.T1967C, in exon 16 of her TSC1 gene was found via genetic tests, which has not yet been reported before