Neurofibromatosis(vonRecklinghausen's disease, NF1) paternal age effect

: Hum Genet. 1992 May;89(3):281-6. Links
Genetics of neurofibromatosis 1 in Japan: mutation rate and paternal age effect.Takano T, Kawashima T, Yamanouchi Y, Kitayama K, Baba T, Ueno K, Hamaguchi H.
Department of Hygiene, Teikyo University School of Medicine, Tokyo, Japan.

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.

PMID: 1351032 [PubMed - indexed for MEDLINE]