Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria

Noriyuki Suzuki; Tamio Suzuki; Katsuhiko Inagaki; Shiro Ito; Michihiro Kono; Tatsuya Horikawa; Sakuhei Fujiwara; Akira Ishiko; Kayoko Matsunaga; Yumi Aoyama; Hiroko Tosaki-Ichikawa; Yasushi Tomita

doi:10.1038/sj.jid.5700528

Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria

Noriyuki Suzuki, Tamio Suzuki, Katsuhiko Inagaki, Shiro Ito, Michihiro Kono, Tatsuya Horikawa, Sakuhei Fujiwara, Akira Ishiko, Kayoko Matsunaga, Yumi Aoyama, Hiroko Tosaki-Ichikawa, Yasushi Tomita

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Abstract

Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal-dominant inheritance. We have reported 20 different mutations of the adenosine deaminase acting on RNA 1 gene (ADAR1) in patients with DSH since we had clarified that the disease is caused by a mutation of the ADAR1 gene in 2003. In this study, we report 10 novel mutations responsible for DSH: p.Q102fsX123, p.T369fsX374, p.S664fsX677, p.R892L, p.I913R, p.R916Q, p.P990fsX1016, p.C1081S, p.C1169F, and p.K1187X.

Original language	English
Pages (from-to)	309-311
Number of pages	3
Journal	Journal of Investigative Dermatology
Volume	127
Issue number	2
DOIs	https://doi.org/10.1038/sj.jid.5700528
Publication status	Published - 02-2007

All Science Journal Classification (ASJC) codes

Biochemistry
Molecular Biology
Dermatology
Cell Biology

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@article{77f347cac0d2452c9b096ed2002149db,

title = "Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria",

abstract = "Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal-dominant inheritance. We have reported 20 different mutations of the adenosine deaminase acting on RNA 1 gene (ADAR1) in patients with DSH since we had clarified that the disease is caused by a mutation of the ADAR1 gene in 2003. In this study, we report 10 novel mutations responsible for DSH: p.Q102fsX123, p.T369fsX374, p.S664fsX677, p.R892L, p.I913R, p.R916Q, p.P990fsX1016, p.C1081S, p.C1169F, and p.K1187X.",

author = "Noriyuki Suzuki and Tamio Suzuki and Katsuhiko Inagaki and Shiro Ito and Michihiro Kono and Tatsuya Horikawa and Sakuhei Fujiwara and Akira Ishiko and Kayoko Matsunaga and Yumi Aoyama and Hiroko Tosaki-Ichikawa and Yasushi Tomita",

note = "Funding Information: We are grateful to the patients, their families, and volunteers for providing blood samples. This work was supported by Grant 16390315, 16591095, 18390312, 18659322 from Ministry of Education, Science, and Culture of Japan, and partially by The Cosmetology Research Foundation. This work was carried out in Nagoya, Japan.",

year = "2007",

month = feb,

doi = "10.1038/sj.jid.5700528",

language = "English",

volume = "127",

pages = "309--311",

journal = "Journal of Investigative Dermatology",

issn = "0022-202X",

publisher = "Elsevier B.V.",

number = "2",

}

TY - JOUR

T1 - Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria

AU - Suzuki, Noriyuki

AU - Suzuki, Tamio

AU - Inagaki, Katsuhiko

AU - Ito, Shiro

AU - Kono, Michihiro

AU - Horikawa, Tatsuya

AU - Fujiwara, Sakuhei

AU - Ishiko, Akira

AU - Matsunaga, Kayoko

AU - Aoyama, Yumi

AU - Tosaki-Ichikawa, Hiroko

AU - Tomita, Yasushi

N1 - Funding Information: We are grateful to the patients, their families, and volunteers for providing blood samples. This work was supported by Grant 16390315, 16591095, 18390312, 18659322 from Ministry of Education, Science, and Culture of Japan, and partially by The Cosmetology Research Foundation. This work was carried out in Nagoya, Japan.

PY - 2007/2

Y1 - 2007/2

N2 - Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal-dominant inheritance. We have reported 20 different mutations of the adenosine deaminase acting on RNA 1 gene (ADAR1) in patients with DSH since we had clarified that the disease is caused by a mutation of the ADAR1 gene in 2003. In this study, we report 10 novel mutations responsible for DSH: p.Q102fsX123, p.T369fsX374, p.S664fsX677, p.R892L, p.I913R, p.R916Q, p.P990fsX1016, p.C1081S, p.C1169F, and p.K1187X.

AB - Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal-dominant inheritance. We have reported 20 different mutations of the adenosine deaminase acting on RNA 1 gene (ADAR1) in patients with DSH since we had clarified that the disease is caused by a mutation of the ADAR1 gene in 2003. In this study, we report 10 novel mutations responsible for DSH: p.Q102fsX123, p.T369fsX374, p.S664fsX677, p.R892L, p.I913R, p.R916Q, p.P990fsX1016, p.C1081S, p.C1169F, and p.K1187X.

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JO - Journal of Investigative Dermatology

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Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria

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