突变
外显子
TSC1
医学
TSC2
癫痫
基因
基因突变
遗传学
生物
精神科
PI3K/AKT/mTOR通路
细胞凋亡
作者
Linli Liu,Zhengzhong Zhang,Zi‐cen Du,Chunshui Yu
出处
期刊:PubMed
日期:2019-10-10
卷期号:36 (10): 1019-1021
标识
DOI:10.3760/cma.j.issn.1003-9406.2019.10.017
摘要
To identify pathogenic mutation of TSC1 and TSC2 genes in a patient with long-time misdiagnosis of epilepsy.Peripheral blood samples and clinical data of the patient and her 2 parents were collected. Potential mutation of TSC1 and TSC2 genes were detected by direct sequencing.The patient had frequent episodes of epilepsy in addition with Shagreen patches for 10 years. A frame-shifting mutation c.2509_2512delAACA was detected in exon 20 of the TSC1 gene. This same mutation was not found in her unaffected parents.The recurrent frame-shifting mutation c.2509_2512delAACA (p.Asn837ValfsX11) of the TSC1 gene probably underlies the disease in this patient.
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