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A novel deletion mutation in the adenosine deaminase RNA-specific gene in a Taiwanese patient with dyschromatosis symmetrica hereditaria

Published on Sep 1, 2011in Dermatologica Sinica0.808
· DOI :10.1016/J.DSI.2010.11.001
Yi-An Chen1
Estimated H-index: 1
(NCKU: National Cheng Kung University),
Sheau-Chiou Chao16
Estimated H-index: 16
(NCKU: National Cheng Kung University),
Julia Yu-Yun Lee19
Estimated H-index: 19
(NCKU: National Cheng Kung University)
Abstract
  • References (9)
  • Citations (1)
References9
Newest
#1Sheau-Chiou ChaoH-Index: 16
#2Ching Yuang HuangH-Index: 1
Last. Mei Hui Yang (NCKU: National Cheng Kung University)H-Index: 1
view all 3 authors...
8 Citations
#1Qing Liu (Peking Union Medical College)H-Index: 11
#2Li Jiang (PRC: China Medical University (PRC))H-Index: 13
Last. Xiaodong Zhang (PRC: China Medical University (PRC))H-Index: 54
view all 10 authors...
Summary Background Dyschromatosis symmetrica hereditaria (DSH, MIM 127400) is a dominantly inherited skin disease associated with mutations in ADAR, the gene that encodes a double-stranded RNA-specific adenosine deaminase. We previously reported two novel ADAR mutations (p.Q513X and p.R916W) and confirmed the role of ADAR in Chinese patients with DSH. Both haploinsufficiency and a dominant-negative effect have been suggested as the potential mechanism by which ADAR mutations cause DSH. Objective...
46 CitationsSource
#1S‐C. Chao (NCKU: National Cheng Kung University)H-Index: 8
#2Jun-Young Lee (NCKU: National Cheng Kung University)H-Index: 35
Last. M‐H. Yang (NCKU: National Cheng Kung University)H-Index: 3
view all 4 authors...
17 CitationsSource
#1X. Y. Zhang (Anhui Medical University)H-Index: 77
#1Xuejun Zhang (Anhui Medical University)H-Index: 48
Last. Wei Huang (Chinese National Human Genome Center)H-Index: 13
view all 15 authors...
Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary genodermatosis characterized by hyperpigmented and hypopigmented macules of on the extremities and caused by the mutations in the ADAR gene(also called DSRAD) encoding for RNA-specific adenosine deaminase. Here we reported clinical and molecular findings of 6 Chinese multi-generation families and 2 sporadic patients with DSH. We found that the same mutation could lead to different phenotypes even in the same family a...
59 CitationsSource
#1Ping-Ping He (Anhui Medical University)H-Index: 14
#2Chundi He (PRC: China Medical University (PRC))H-Index: 3
Last. X. Y. Zhang (Anhui Medical University)H-Index: 77
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Summary Background Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary genodermatosis characterized by hyperpigmented and hypopigmented macules on the extremities, which has recently been mapped to an 11·6-cM interval on chromosome 1q11–21. So far, most cases of DSH have been reported in Japan and dermatologists around the world might think this disorder mainly occurs in Japan. In fact, there are 17 DSH families including 136 cases reported in China since 1980, but mo...
24 CitationsSource
#1Qingde WangH-Index: 2
#1Qingde Wang (Wistar Institute)H-Index: 5
Last. Kazuko NishikuraH-Index: 47
view all 7 authors...
Abstract One type of RNA editing involves the conversion of adenosine residues into inosine in double-stranded RNA through the action of adenosine deaminases acting on RNA (ADAR). A-to-I RNA editing of the coding sequence could result in synthesis of proteins not directly encoded in the genome. ADAR edits also non-coding sequences of target RNAs, such as introns and 3′-untranslated regions, which may affect splicing, translation, and mRNA stability. Three mammalian ADAR gene family members (ADAR...
284 CitationsSource
#1Yoshinori Miyamura (Nagoya University)H-Index: 10
#2Tamio Suzuki (Nagoya University)H-Index: 25
Last. Yasushi Tomita (Nagoya University)H-Index: 24
view all 7 authors...
Dyschromatosis symmetrica hereditaria (DSH) (also called “reticulate acropigmentation of Dohi”) is a pigmentary genodermatosis of autosomal dominant inheritance characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the dorsal aspects of the hands and feet. To determine the gene responsible for this disease, we performed a genomewide search in three families with DSH and mapped the DSH locus to chromosome 1q21.3. The mutations involved in causing DSH have been iden...
167 CitationsSource
#1Dan Sung C. Cho (UPenn: University of Pennsylvania)H-Index: 1
#2Weidong Yang (UPenn: University of Pennsylvania)H-Index: 2
Last. Kazuko Nishikura (UPenn: University of Pennsylvania)H-Index: 3
view all 6 authors...
Abstract Adenosine deaminases acting on RNA (ADAR) convert adenosine residues into inosines in double-stranded RNA. Three vertebrate ADAR gene family members, ADAR1,ADAR2, and ADAR3, have been identified. The catalytic domain of all three ADAR gene family members is very similar to that of Escherichia coli cytidine deaminase and APOBEC-1. Homodimerization is essential for the enzyme activity of those cytidine deaminases. In this study, we investigated the formation of complexes between different...
138 CitationsSource
#1M. Oyama (Keio: Keio University)H-Index: 1
#2Hiroshi Shimizu (Keio: Keio University)H-Index: 65
Last. Takeji Nishikawa (Keio: Keio University)H-Index: 45
view all 5 authors...
We report a Japanese family with dyschromatosis symmetrica hereditaria (DSH) (MIM 127400 in McKusick's Mendelian Inheritance in Man), a rare autosomal dominant genodermatosis, predominantly occurring among Japanese and Korean individuals. Members of the present family affected with the disease showed a mixture of hyperpigmented and hypopigmented macules distributed on the face and the dorsal aspects of the extremities, which are typical of DSH. As most of the literature on DSH has been written i...
82 CitationsSource
Cited By1
Newest
#1Amy Chia Ying Peng (NCKU: National Cheng Kung University)H-Index: 2
#2Yi An Chen (NCKU: National Cheng Kung University)H-Index: 1
Last. Sheau-Chiou Chao (NCKU: National Cheng Kung University)H-Index: 16
view all 3 authors...
Abstract Background/Objective Dyschromatosis symmetrica hereditaria (DSH) is a rare pigmentary genodermatosis characterized by hyper- and hypopigmented macules on the face and dorsal aspects of the extremities. This study aimed to delineate the unique clinical, histological, and genetic features of DSH in a Taiwanese population. Methods A retrospective review of clinical charts and archival photographs was performed for patients diagnosed with DSH in a medical center in Taiwan between 1992 and 2...
4 CitationsSource