Tuesday, May 8, 2007

J.M. Friedman on the Epidemiology of Neurofibromatosis type 1

Epidemiology of neurofibromatosis type 1
J.M. Friedman *

email: J.M. Friedman (frid@interchange.ubc.ca) *Correspondence to J.M. Friedman, UBC Department of Medical Genetics, BC Children's Hospital, 4500 Oak Street, Room C201, Vancouver, Canada V6H 3N1

Dr. Friedman is professor and head of the Department of Medical Genetics at the University of British Columbia and Children's and Women's Health Centre of British Columbia. He is a clinical geneticist.

NF1 • epidemiology • mutation

The prevalence of neurofibromatosis type 1 (NF1) is about 1/3,000. There are no known ethnic groups in which NF1 does not occur or is unusually common. The prevalence is somewhat higher in young children than in adults, a difference that probably results at least in part from the early death of some NF1 patients. NF1 is fully penetrant in adults, but many disease features increase in frequency or severity with age. The reproductive fitness of NF1 patients is reduced by about one-half. About half of all cases result from new mutations. The estimated rate of new NF1 mutations is unusually high, but the basis for this high mutation rate is not known. Am. J. Med. Genet. (Semin. Med. Genet.) 89:1-6, 1999. © 1999 Wiley-Liss, Inc.


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