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

doi:10.1007/BF00218920

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

Research output: Contribution to journal › Article › peer-review

26 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 language	English
Pages (from-to)	81-83
Number of pages	3
Journal	Human Genetics
Volume	93
Issue number	1
DOIs	https://doi.org/10.1007/BF00218920
Publication status	Published - Jan 1994
Externally published	Yes

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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10.1007/BF00218920

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title = "Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese",

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.",

author = "Takahiko Horiuchi and Nobuaki Hatta and Mitsuru Matsumoto and Hisashi Ohtsuka and Collins, {Francis S.} and Yuzuru Kobayashi and Shigeru Fujita",

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doi = "10.1007/BF00218920",

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T1 - Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese

AU - Horiuchi, Takahiko

AU - Hatta, Nobuaki

AU - Matsumoto, Mitsuru

AU - Ohtsuka, Hisashi

AU - Collins, Francis S.

AU - Kobayashi, Yuzuru

AU - Fujita, Shigeru

PY - 1994/1

Y1 - 1994/1

N2 - 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.

AB - 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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JO - Human Genetics

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

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