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Presymptomatic diagnosis of neurofibromatosis 2 using linked genetic markers, neuroimaging, and ocular examinations

From the Division of Neurology and Neurogenetics Laboratory (Dr. Baser, A. Nechiporuk, and Drs. Sainz and Pulst), and the Department of Pediatrics (Dr. Ragge and J. Klein), Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA; Allgemeines Krankenhaus Ochsenzoll (Dr. Mautner), Hamburg, Germany; and the Neurofibromatosis Institute (Dr. Riccardi), La Crescenta, CA.
Supported in part by House Ear Institute 484 (M.E.B., J.K., S.M.P.), Hamburger Stiftung zur Forderung der Krebsbekampfung 116, 127 (V.F.M.), Wilhem-Sander-Stiftung 93.05.21 (V.F.M.), the Vista Foundation (N.K.R.), the Texas NF Foundation (V.M.R), American Cancer Society VM-94 (S.M.P.), the Steven and Lottie Walker Foundation (S.M.P.), the Carmen and Louis Warschaw Endowment Fund (S.M.P.), and NIH 5L-08NSO1428-04 (S.M.P.).
Received August 10, 1995. Accepted in final form April 2, 1996.
Address correspondence and reprint requests to Dr. Michael E. Baser, 11746 Bellagio Rd., #308, Los Angeles, CA 90049 or Dr. Stefan-M. Pulst, Division of Neurology, Rm. 8920 South Tower, Cedars-Sinai Medical Center, 8700 Beverly Blvd., Los Angeles, CA 90048.

Neurofibromatosis 2 (NF2) is an autosomal dominant disorder that causes nervous system tumors and ocular abnormalities such as early-onset lenticular opacities. We assessed the clinical spectrum of NF2 at the time of presymptomatic DNA diagnosis in at-risk first-degree relatives. We studied five multigeneration NF2 families with short tandem repeat markers near the NF2 gene (NF2); gadolinium-enhanced high-resolution magnetic resonance imaging (GE-MRI); and ocular, dermatologic, and neurologic examinations. Eleven of 31 asymptomatic at-risk first-degree relatives were predicted by segregation analysis to be NF2 mutation carriers. Nine of the 11 NF2 mutation carriers were clinically evaluated. Four mutation carriers, including a 7-year-old, had vestibular schwannomas, early-onset cataracts, or both. However, five mutation carriers did not have clinical abnormalities, including a 38-year-old with normal cranial and spinal GE-MRIs and a normal ocular examination. These results indicate that clinical abnormalities can be present in young, but absent in middle-aged, presymptomatic NF2 mutation carriers. By identifying presymptomatic NF2 mutation carriers, DNA diagnosis of NF2 can improve genetic counseling and clinical management, and possibly reduce psychosocial difficulties in at-risk individuals.

NEUROLOGY 1996;47: 1269-1277

This article has been cited by other articles:

				M. E. Baser, J. M. Friedman, A. J. Wallace, R. T. Ramsden, H. Joe, and D. G.R. Evans Evaluation of clinical diagnostic criteria for neurofibromatosis 2 Neurology, December 10, 2002; 59(11): 1759 - 1765. [Abstract] [Full Text] [PDF]

				D. H. Gutmann, A. C. Hirbe, and C. A. Haipek Functional analysis of neurofibromatosis 2 (NF2) missense mutations Hum. Mol. Genet., July 1, 2001; 10(14): 1519 - 1529. [Abstract] [Full Text] [PDF]

				D G. R Evans, M Sainio, and M. E Baser Neurofibromatosis type 2 J. Med. Genet., December 1, 2000; 37(12): 897 - 904. [Abstract] [Full Text]

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