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J Med Genet. Dec 1992; 29(12): 847–852.
PMCID: PMC1016199

A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling.


The 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.

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Selected References

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  • Seizinger BR, Rouleau GA, Ozelius LJ, Lane AH, Faryniarz AG, Chao MV, Huson S, Korf BR, Parry DM, Pericak-Vance MA, et al. Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. Cell. 1987 Jun 5;49(5):589–594. [PubMed]
  • Barker D, Wright E, Nguyen K, Cannon L, Fain P, Goldgar D, Bishop DT, Carey J, Baty B, Kivlin J, et al. Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science. 1987 May 29;236(4805):1100–1102. [PubMed]
  • Seizinger BR, Martuza RL, Gusella JF. Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma. Nature. 1986 Aug 14;322(6080):644–647. [PubMed]
  • Rouleau GA, Wertelecki W, Haines JL, Hobbs WJ, Trofatter JA, Seizinger BR, Martuza RL, Superneau DW, Conneally PM, Gusella JF. Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature. 1987 Sep 17;329(6136):246–248. [PubMed]
  • Huson SM, Harper PS, Compston DA. Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales. Brain. 1988 Dec;111(Pt 6):1355–1381. [PubMed]
  • Kaiser-Kupfer MI, Freidlin V, Datiles MB, Edwards PA, Sherman JL, Parry D, McCain LM, Eldridge R. The association of posterior capsular lens opacities with bilateral acoustic neuromas in patients with neurofibromatosis type 2. Arch Ophthalmol. 1989 Apr;107(4):541–544. [PubMed]
  • Evans DG, Huson SM, Donnai D, Neary W, Blair V, Teare D, Newton V, Strachan T, Ramsden R, Harris R. A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. J Med Genet. 1992 Dec;29(12):841–846. [PMC free article] [PubMed]
  • Martuza RL, Ojemann RG. Bilateral acoustic neuromas: clinical aspects, pathogenesis, and treatment. Neurosurgery. 1982 Jan;10(1):1–12. [PubMed]
  • Huson S, Jones D, Beck L. Ophthalmic manifestations of neurofibromatosis. Br J Ophthalmol. 1987 Mar;71(3):235–238. [PMC free article] [PubMed]
  • Michels VV, Whisnant JP, Garrity JA, Miller GM. Neurofibromatosis type 1 with bilateral acoustic neuromas. Neurofibromatosis. 1989;2(4):213–217. [PubMed]
  • Sadeh M, Martinovits G, Goldhammer Y. Occurrence of both neurofibromatoses 1 and 2 in the same individual with a rapidly progressive course. Neurology. 1989 Feb;39(2 Pt 1):282–283. [PubMed]
  • Kanter WR, Eldridge R, Fabricant R, Allen JC, Koerber T. Central neurofibromatosis with bilateral acoustic neuroma: genetic, clinical and biochemical distinctions from peripheral neurofibromatosis. Neurology. 1980 Aug;30(8):851–859. [PubMed]
  • Martuza RL, Eldridge R. Neurofibromatosis 2 (bilateral acoustic neurofibromatosis). N Engl J Med. 1988 Mar 17;318(11):684–688. [PubMed]
  • Pearson-Webb MA, Kaiser-Kupfer MI, Eldridge R. Eye findings in bilateral acoustic (central) neurofibromatosis: association with presenile lens opacities and cataracts but absence of Lisch nodules. N Engl J Med. 1986 Dec 11;315(24):1553–1554. [PubMed]
  • Charles SJ, Moore AT, Yates JR, Ferguson-Smith MA. Lisch nodules in neurofibromatosis type 2. Case report. Arch Ophthalmol. 1989 Nov;107(11):1571–1572. [PubMed]
  • Good WV, Erodsky MC, Edwards MS, Hoyt WF. Bilateral retinal hamartomas in neurofibromatosis type 2. Br J Ophthalmol. 1991 Mar;75(3):190–190. [PMC free article] [PubMed]
  • Baldwin D, King TT, Chevretton E, Morrison AW. Bilateral cerebellopontine angle tumors in neurofibromatosis type 2. J Neurosurg. 1991 Jun;74(6):910–915. [PubMed]
  • Allen J, Eldridge R, Koerber T. Acoustic neuroma in the last months of pregnancy. Am J Obstet Gynecol. 1974 Jun 15;119(4):516–520. [PubMed]

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