title: Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation.
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.
authors: Medical Genetics Unit, Department of Clinical Physiopathology, University of Florence, Florence, Italy.
authors: Costanza
authors: C
authors: Bacci
authors: Roberta
authors: R
authors: Sestini
authors: Aldesia
authors: A
authors: Provenzano
authors: Irene
authors: I
authors: Paganini
authors: Irene
authors: I
authors: Mancini
authors: Berardino
authors: B
authors: Porfirio
authors: Rossella
authors: R
authors: Vivarelli
authors: Maurizio
authors: M
authors: Genuardi
authors: Laura
authors: L
authors: Papi
mesh_terms: D000328:Adult; D000368:Aged; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006801:Humans; D007558:Italy; D008297:Male; D008579:Meningioma / Q000235:genetics*; D018895:Microsatellite Repeats; D008875:Middle Aged; D009154:Mutation; D009442:Neurilemmoma / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D000071796:SMARCB1 Protein; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors