A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma
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.
Document Details
- Document Type
- Pub Defense Publication
- Publication Date
- Nov 19, 2020
- Source ID
- 10.1038/s41439-020-00124-8
Entities
People
- Akira Yoshii
- Alice Zalan
- Gifty Bhat
- Jerry Machado
- Luis Manon
- Nikolas Mata-machado
- Saba Ahmad
- Steven Garzon
Organizations
- United States Department of Defense