错义突变
皮质发育不良
生殖系
癫痫
表型
种系突变
发育不良
生物
体细胞
生物信息学
医学
神经科学
基因
遗传学
癌症研究
突变
作者
Joana Jesus-Ribeiro,Cristina Silva Pereira,Conceição Robalo,Daniela Isabel Brayer Pereira,Diana Duro,Fabiana Pinheiro Ramos,António Freire,Joana B. Melo
摘要
ABSTRACT Germline and 2-hit brain somatic variants in DEPDC5 gene, a negative regulator of the mammalian target of rapamycin (mTOR) pathway, are increasingly recognized in patients with focal cortical dysplasia (FCD). Next-generation targeted sequencing identified a heterozygous germline variant in DEPDC5 gene (c.3241A>C, p.Thr1081Pro), classified as of unknown significance, in a patient with clinical features compatible with DEPDC5 phenotype (FCD, focal epilepsy, attention-deficit/hyperactivity disorder and borderline intellectual functioning). This missense variant has previously been reported in two other epileptic patients. Although interpretation of missense variants remains a challenge, DEPDC5 variants in patients with FCD and epilepsy cannot be neglected. Null variants were the most frequently reported in FCD patients, but missense variants have been described as well. The recognition of DEPDC5 phenotype and the appropriate interpretation of the detected variants are essential, since it may have important treatment implications in the near future, namely the use of mTOR inhibitors.
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