一种与结节性硬化症和骶尾部畸胎瘤相关的新型TSC1变体。

A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma.

作者信息

Ahmad Saba, Manon Luis, Bhat Gifty, Machado Jerry, Zalan Alice, Mata-Machado Nikolas, Garzon Steven, Yoshii Akira

机构信息

Department of Pediatrics, The Division of Pediatric Neurology, University of Illinois at Chicago, Chicago, IL, USA.

Department of Pathology, University of Illinois at Chicago, Chicago, IL, USA.

出版信息

Hum Genome Var. 2020 Nov 19;7(1):39. doi: 10.1038/s41439-020-00124-8.

DOI:10.1038/s41439-020-00124-8

PMID:33298910

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7677537/

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant disease associated with tumors and malformed tissues in the brain and other vital organs. We report a novel de novo frameshift variant of the TSC1 gene (c.434dup;p. Ser146Valfs*8) in a child with TSC who initially presented with a sacral teratoma. This previously unreported association between TSC and teratoma has broad implications for the pathophysiology of embryonic tumors and mechanisms underlying cellular differentiation.

摘要

结节性硬化症（TSC）是一种常染色体显性疾病，与大脑及其他重要器官中的肿瘤和组织畸形有关。我们报告了一名患有TSC的儿童，其TSC1基因出现了一种新的从头移码变异（c.434dup；p.Ser146Valfs*8），该患儿最初表现为骶尾部畸胎瘤。TSC与畸胎瘤之间这种先前未报道的关联，对胚胎肿瘤的病理生理学以及细胞分化的潜在机制具有广泛影响。