title: A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity.
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.
authors.affiliation: Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff.
authors.forename: S M
authors.initials: SM
authors.lastname: Huson
authors.forename: D A
authors.initials: DA
authors.lastname: Compston
authors.forename: P
authors.initials: P
authors.lastname: Clark
authors.forename: P S
authors.initials: PS
authors.lastname: Harper
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001722:Birth Order; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008423:Maternal Age; D008875:Middle Aged; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000453:epidemiology / Q000235:genetics*; D010331:Paternal Age; D015995:Prevalence; D012720:Severity of Illness Index; D012737:Sex Factors; D014852:Wales