新发结节性硬化症3例新突变的检测

Scientific Journal of Genetics and Gene Therapy Pub Date : 2019-09-12 DOI:10.17352/SJGGT.000017

CA Quintero Vasquez, I. Gonzalez, ML Quevedo Camera, AM García Ordonez, LG Celis Regalado

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摘要

简介:结节性硬化症是一种常染色体显性病因的多系统疾病，在拉丁美洲并不常见。它是由TSC1和TSC2基因突变引起的，其特征是在不同器官和系统中不受控制地产生错构瘤。然而，一些患者可能表现出无症状特征，而另一些患者可能出现致命症状。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Detection of new mutations in 3 cases de novo tuberous sclerosis

Introduction: The tuberous sclerosis complex is a multisystemic disease of autosomal dominant etiology, not pretty common in Latin America. It is caused by the mutation of the TSC1 and TSC2 genes which is characterized by uncontrolled production of Hamartomas in diverse organs and systems. However, some patients could present asymptomatic characteristics whereas other could experience fatal symptoms.

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Scientific Journal of Genetics and Gene Therapy

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