A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma.
Journal
Human genome variation
ISSN: 2054-345X
Titre abrégé: Hum Genome Var
Pays: England
ID NLM: 101652445
Informations de publication
Date de publication:
19 Nov 2020
19 Nov 2020
Historique:
received:
11
07
2020
accepted:
05
10
2020
revised:
15
09
2020
entrez:
10
12
2020
pubmed:
11
12
2020
medline:
11
12
2020
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 33298910
doi: 10.1038/s41439-020-00124-8
pii: 10.1038/s41439-020-00124-8
pmc: PMC7677537
doi:
Types de publication
Journal Article
Langues
eng
Pagination
39Subventions
Organisme : U.S. Department of Defense (United States Department of Defense)
ID : W81XWH-09-1-0088
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