Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese |
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| Authors: | Takahiko Horiuchi Nobuaki Hatta Mitsuru Matsumoto Hisashi Ohtsuka Francis S Collins Yuzuru Kobayashi Shigeru Fujita |
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| Institution: | (1) First Department of Internal Medicine, Ehime University, Shigenobu, 791-02 Ehime, Japan;(2) Department of Dermatology, School of Medicine, Ehime University, 791-02 Ehime, Japan;(3) Howard Hughes Medical Institute, University of Michigan Medical Center, 48109-0650 Ann Arbor, MI, USA |
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| 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. |
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