A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling.
AffiliationDepartment of Medical Genetics, St Mary's Hospital, Manchester.
MetadataShow full item record
AbstractThe major defining features, age at onset of symptoms, and survival in 150 patients with type 2 neurofibromatosis (NF2) have been studied. The mean age at onset was 21.57 years (n = 110) and no cases presented after 55 years of age. Patients presented with symptoms attributable to vestibular schwannomas (acoustic neuroma), cranial meningiomas, and spinal tumours. In 97 cases studied personally by the authors, skin and eye examination were found to be useful to detect early signs of the condition. Examination of the skin is likely to assist in early diagnosis in at least 10% of cases and examination of the eye for a lens opacity or cataract in at least as many again. There are marked interfamilial differences in disease severity and tumour susceptibility. Vestibular schwannomas are not fully penetrant, but the condition is usually expressed in another way. Alteration to the current diagnostic criteria is advocated to cover the lack of provision for new mutations. A screening protocol is proposed and the effect of disease heterogeneity on management is discussed.
CitationA genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling. 1992, 29 (12):847-52 J. Med. Genet.
JournalJournal of Medical Genetics
- A clinical study of type 2 neurofibromatosis.
- Authors: Evans DG, Huson SM, Donnai D, Neary W, Blair V, Newton V, Harris R
- Issue date: 1992 Aug
- Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II].
- Authors: Evans DG
- Issue date: 2009 Sep
- Neurofibromatosis type 2 (NF2): a clinical and molecular review.
- Authors: Evans DG
- Issue date: 2009 Jun 19
- Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas.
- Authors: Mohyuddin A, Neary WJ, Wallace A, Wu CL, Purcell S, Reid H, Ramsden RT, Read A, Black G, Evans DG
- Issue date: 2002 May
- [Type 2 neurofibromatosis without acoustic neuroma].
- Authors: Mautner VF, Lindenau M, Köppen J, Hazim W, Kluwe L
- Issue date: 1995