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Published on: August 15, 2019
A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma
Saba Ahmad1, Luis Manon2, Gifty Bhat3
1Department of Pediatrics, The Division of Pediatric Neurology, University of Illinois at Chicago, Chicago, IL, USA.
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.

