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Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation
- Source :
- Neurogenetics. 11(1)
- Publication Year :
- 2009
-
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.
- Subjects :
- Adult
Male
TYPE-2 NEUROFIBROMATOSIS
Chromosomal Proteins, Non-Histone
MOLECULAR ANALYSIS
Biology
Settore MED/03 - GENETICA MEDICA
Meningioma
Cellular and Molecular Neuroscience
Exon
Germline mutation
otorhinolaryngologic diseases
Genetics
medicine
Consensus sequence
Humans
SMARCB1
Schwannomatosis
GERMLINE MUTATION
INI1 MUTATION
Genetics (clinical)
Aged
MALIGNANT RHABDOID TUMOR
CENTRAL-NERVOUS-SYSTEM
NEUROFIBROMATOSIS 2
PREDISPOSITION SYNDROME
SUPPRESSOR GENE
HSNF5/INI1 GENE
SMARCB1 Protein
Middle Aged
medicine.disease
Human genetics
Pedigree
DNA-Binding Proteins
Phenotype
Haplotypes
Italy
Mutation (genetic algorithm)
Mutation
Cancer research
Female
Neurilemmoma
Microsatellite Repeats
Transcription Factors
Subjects
Details
- ISSN :
- 13646753
- Volume :
- 11
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Neurogenetics
- Accession number :
- edsair.doi.dedup.....dacb81497ea60ecdba8a75fc7fd3e6fd