Multiple schwannomatosis caused by the recently described INI1 gene--molecular pathology, and implications for prognosis.
The most common genetic predisposition to multiple schwannoma growth is mutation of the neurofibromatosis type 2 gene. We describe a patient with multiple schwannomas and mutation in the recently described INI1 gene, which also predisposes to the disease. We explore the implications for prognosis and outcome.
Brennan
Paul M
PM
Department of Clinical Neurosciences, Western General Hospital, Edinburgh, UK. paul.brennan@ed.ac.uk
Barlow
Antonio
A
Geraghty
Alistair
A
Summers
David
D
Fitzpatrick
Michael M
MM
D000368:Aged; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*; D009442:Neurilemmoma / Q000235:genetics / Q000601:surgery; D017253:Neurofibromatoses / Q000235:genetics / Q000601:surgery; D016518:Neurofibromatosis 2 / Q000235:genetics* / Q000601:surgery; D011379:Prognosis; D000071796:SMARCB1 Protein; D012878:Skin Neoplasms / Q000235:genetics / Q000601:surgery; D014157:Transcription Factors / Q000235:genetics*; D016896:Treatment Outcome
D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors