title: Segregation analysis of peripheral neurofibromatosis (NF1).
abstract: Four studies of NF1 support a prevalence of 0.0003 and a carrier incidence at birth of 0.0004. The gene frequency (q) is therefore 0.0002, and the proportion of cases owing to fresh mutation is 0.56. The mutation rate (xq) is 10(-4), an unusually high value suggestive of a large gene. Penetrance among subjects examined is virtually complete, and there is no evidence of phenocopies or somatic mutations.
authors.affiliation: Department of Community Medicine, Southampton General Hospital.
authors.forename: M
authors.initials: M
authors.lastname: Littler
authors.forename: N E
authors.initials: NE
authors.lastname: Morton
mesh_terms: D002648:Child; D003434:Crossing Over, Genetic; D001330:Electronic Data Processing; D005060:Europe; D005260:Female; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D015994:Incidence; D008297:Male; D008824:Michigan; D009456:Neurofibromatosis 1 / Q000235:genetics*; D015995:Prevalence; D015203:Reproducibility of Results