A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity

J Med Genet. 1989 Nov;26(11):704-11. doi: 10.1136/jmg.26.11.704.

Abstract

A population based study of von Recklinghausen neurofibromatosis in south east Wales (population 668,100) identified 69 families with 135 affected members (prevalence 1/4950 of the population). In these families penetrance of the NF-1 gene was 100% by the age of five years. The genetic fitness of NF-1 sufferers was found to be reduced to 0.47, the effect being more marked in males than females (f = 0.31 and 0.60, respectively). Forty-one of 135 cases were judged to represent new disease mutations and the mutation rate was estimated to lie between 3.1 x 10(-5) and 10.4 x 10(-5). A parental age effect for new mutations was not found, nor was a maternal effect on disease severity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Birth Order
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Male
  • Maternal Age
  • Middle Aged
  • Mutation*
  • Neurofibromatosis 1 / epidemiology
  • Neurofibromatosis 1 / genetics*
  • Paternal Age
  • Prevalence
  • Severity of Illness Index
  • Sex Factors
  • Wales