A sporadic case of tuberous sclerosis complex caused by a newly found heterozygous missense mutation of c.T1967C in TSC1 gene

VernacularTitle:新发现TSC1基因杂合错义突变c.T1967C致结节性硬化症的1例散发病例
Author: Mengsha YAO ; Jun LIU
Keywords: tuberous sclerosis complex; TSC1 gene; missense mutation; sporadic
From: Journal of Shanghai Jiaotong University(Medical Science) 2017;37(6):881-884
CountryChina
Language:Chinese
Abstract: 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.