Genetics of neurofibromatosis 1 in Japan: mutation rate and paternal age effect.
We have performed formal genetic studies on 26 patients (14 males, 12 females) with neurofibromatosis 1 (von Recklinghausen's disease, NF1) in Japan. Family studies of 74 members of 18 kindreds revealed that 50% of the cases were caused by a new mutation; the mutation rate was assumed to be 7.3-10.5 x 10(-5). A tendency of paternal age effect, which was not accounted for by the maternal age effect, was observed, but live-birth order had no significant effect. Genetic linkage of neurofibromatosis 1 to the NF1 gene or the genetic marker in the pericentric region of chromosome 17 was established in 3 informative families.
Takano
T
T
Department of Hygiene, Teikyo University School of Medicine, Tokyo, Japan.
Kawashima
T
T
Yamanouchi
Y
Y
Kitayama
K
K
Baba
T
T
Ueno
K
K
Hamaguchi
H
H
D000367:Age Factors; D044466:Asian People / Q000235:genetics; D002886:Chromosomes, Human, Pair 17; D005260:Female; D016514:Genes, Neurofibromatosis 1 / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D008423:Maternal Age; D009154:Mutation / Q000235:genetics; D009456:Neurofibromatosis 1 / Q000453:epidemiology / Q000235:genetics*; D010331:Paternal Age; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012744:Sex Ratio