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neurogenetics

, Volume 11, Issue 1, pp 73–80 | Cite as

Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation

  • Costanza Bacci
  • Roberta SestiniEmail author
  • Aldesia Provenzano
  • Irene Paganini
  • Irene Mancini
  • Berardino Porfirio
  • Rossella Vivarelli
  • Maurizio Genuardi
  • Laura Papi
ORIGINAL ARTICLE

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.

Keywords

Schwannomatosis Multiple meningiomas SMARCB1 mutation 

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Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • Costanza Bacci
    • 1
  • Roberta Sestini
    • 1
    • 4
    Email author
  • Aldesia Provenzano
    • 1
  • Irene Paganini
    • 1
  • Irene Mancini
    • 1
  • Berardino Porfirio
    • 1
  • Rossella Vivarelli
    • 2
  • Maurizio Genuardi
    • 1
    • 3
  • Laura Papi
    • 1
  1. 1.Medical Genetics Unit, Department of Clinical PhysiopathologyUniversity of FlorenceFlorenceItaly
  2. 2.Dipartimento di Pediatria, Ostetricia e Medicina della Riproduzione, Sezione di PediatriaUniversity of SienaSienaItaly
  3. 3.Fiorgen Foundation for PharmacogenomicsSesto FiorentinoItaly
  4. 4.Sezione di Genetica Medica, Dipartimento di Fisiopatologia ClinicaFirenzeItaly

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