RGD Reference Report - Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri. - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri.

Authors: van den Munckhof, Pepijn  Christiaans, Imke  Kenter, Susan B  Baas, Frank  Hulsebos, Theo J M 
Citation: van den Munckhof P, etal., Neurogenetics. 2012 Feb;13(1):1-7. doi: 10.1007/s10048-011-0300-y. Epub 2011 Oct 26.
RGD ID: 155804288
Pubmed: PMID:22038540   (View Abstract at PubMed)
DOI: DOI:10.1007/s10048-011-0300-y   (Journal Full-text)

Schwannomatosis is a rare hereditary cancer syndrome in which patients develop multiple non-vestibular schwannomas. The chromatin remodelling gene SMARCB1 (also known as INI1, hSNF5, and BAF47) has been identified as a schwannomatosis predisposing gene, being involved in a subset of sporadic and familial cases. Recent studies have shown that SMARCB1 may also be involved in the development of multiple meningiomas. Previously, we demonstrated that the SMARCB1 exon 2 missense mutation c.143 C > T segregates with the presence of meningiomas in five members of a large family with multiple meningiomas and schwannomas. We extended our genetic analyses by screening 44 additional at-risk family members and identified 13 new carriers. Eleven of these were subjected to magnetic resonance imaging (MRI) of brain and spine. In addition, we analyzed four meningiomas and two schwannomas from family members for the presence of schwannomatosis-specific changes. We found in each tumor retention of the SMARCB1 exon 2 mutation, acquisition of an independent neurofibromatosis type 2 (NF2) gene mutation, and loss of heterozygosity at SMARCB1 and NF2 by loss of the wild-type copy of both genes. The MRI scans revealed one or more falx meningiomas in seven of 11 (64%) newly identified SMARCB1 mutation carriers. We conclude that the SMARCB1 exon 2 missense mutation in this family predisposes to the development of meningiomas as well as schwannomas, occurring via the same genetic pathways, and that this mutation preferentially induces cranial meningiomas located at the falx cerebri.



RGD Manual Disease Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
SMARCB1Humanmeningioma  IAGP DNA:missense mutation and loss of heterozygosity:cds: c.143C>T (human)RGD 
Smarcb1Ratmeningioma  ISOSMARCB1 (Homo sapiens)DNA:missense mutation and loss of heterozygosity:cds: c.143C>T (human)RGD 
Smarcb1Mousemeningioma  ISOSMARCB1 (Homo sapiens)DNA:missense mutation and loss of heterozygosity:cds: c.143C>T (human)RGD 
SMARCB1Humanschwannomatosis  IAGP DNA:missense mutation and loss of heterozygosity:cds: c.143C>T (human)RGD 
Smarcb1Ratschwannomatosis  ISOSMARCB1 (Homo sapiens)DNA:missense mutation and loss of heterozygosity:cds: c.143C>T (human)RGD 
Smarcb1Mouseschwannomatosis  ISOSMARCB1 (Homo sapiens)DNA:missense mutation and loss of heterozygosity:cds: c.143C>T (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Smarcb1  (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1)

Genes (Mus musculus)
Smarcb1  (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1)

Genes (Homo sapiens)
SMARCB1  (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1)


Additional Information