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01-02-2010 | ORIGINAL ARTICLE

Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation

Authors: Costanza Bacci, Roberta Sestini, Aldesia Provenzano, Irene Paganini, Irene Mancini, Berardino Porfirio, Rossella Vivarelli, Maurizio Genuardi, Laura Papi

Published in: Neurogenetics | Issue 1/2010

Abstract

Schwannomatosis (MIM 162091) is a condition predisposing to the development of central and peripheral schwannomas; most cases are sporadic without a clear family history but a few families with a clear autosomal dominant pattern of transmission have been described. Germline mutations in SMARCB1 are associated with schwannomatosis. We report a family with multiple schwannomas and meningiomas. A SMARCB1 germline mutation in exon 1 was identified. The mutation, c.92A>T (p.Glu31Val), occurs in a highly conserved amino acid in the SMARCB1 protein. In addition, in silico analysis demonstrated that the mutation disrupts the donor consensus sequence of exon 1. RNA studies verified the absence of mRNA transcribed by the mutant allele. This is the first report of a SMARCB1 germline mutation in a family with schwannomatosis characterized by the development of multiple meningiomas.

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Title: Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation
Authors: Costanza Bacci
Roberta Sestini
Aldesia Provenzano
Irene Paganini
Irene Mancini
Berardino Porfirio
Rossella Vivarelli
Maurizio Genuardi
Laura Papi
Publication date: 01-02-2010
Publisher: Springer-Verlag
Published in: Neurogenetics / Issue 1/2010
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-009-0204-2

At a glance: The STEP trials

Springer Medicine

Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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