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.
UR - https://www.scopus.com/pages/publications/33846226051
UR - https://www.scopus.com/pages/publications/33846226051#tab=citedBy
U2 - 10.1038/sj.jid.5700528
DO - 10.1038/sj.jid.5700528
M3 - Article
C2 - 16917490
AN - SCOPUS:33846226051
SN - 0022-202X
VL - 127
SP - 309
EP - 311
JO - Journal of Investigative Dermatology
JF - Journal of Investigative Dermatology
IS - 2
ER -