✦ LIBER ✦

Genetics of neurofibromatosis 1 in Japan: mutation rate and paternal age effect

✍ Scribed by Takako Takano; Tomoko Kawashima; Yasuko Yamanouchi; Ken Kitayama; Toru Baba; Kenichi Ueno; Hideo Hamaguchi

Publisher: Springer
Year: 1992
Tongue: English
Weight: 514 KB
Volume: 89
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00220540

No coin nor oath required. For personal study only.

✦ Synopsis

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.

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