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Updated: Sep 16, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

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对一种新型TSC1拼接突变的基因分析,该突变导致无神经现象型的结核性硬化症

Xiu-Juan Yao1, Ying Lin2, Jing Zou1

  • 1Department of Pulmonary and Critical Care Medicine and Traditional Chinese Medicine, Shengli Clinical Medical College of Fujian Medical University, Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China.

Scientific reports
|July 9, 2025
PubMed
概括

这项研究确定了一种与结核性硬化综合体 (TSC) 相关的新型TSC1基因突变 (c.363+668G>C). 突变导致蛋白质异常拼接,导致受影响家庭成员的各种临床症状.

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相关概念视频

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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