Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese

Takahiko Horiuchi, Nobuaki Hatta, Mitsuru Matsumoto, Hisashi Ohtsuka, Francis S. Collins, Yuzuru Kobayashi, Shigeru Fujita

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25 Citations (Scopus)

Abstract

We report two familial cases of NF1 presenting as C to T transitions changing an Arg-1947 codon to a stop codon. In one of the two families, cosegregation of the mutation with NF1 was demonstrated, indicating this mutation causes the disease in this family. As the same mutation at Arg-1947 has been reported previously in three cases of unrelated Caucasians (two are sporadic; the origin of the other is not reported), the codon at Arg-1947 (CGA) in the NF1 gene is considered to be a hotspot common among different ethnic groups and also among familial and sporadic cases.

Original languageEnglish
Pages (from-to)81-83
Number of pages3
JournalHuman Genetics
Volume93
Issue number1
DOIs
Publication statusPublished - Jan 1994
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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