Case of pachydermoperiostosis with solute carrier organic anion transporter family, member 2A1 (SLCO2A1) mutations
Corresponding Author
Satoko Minakawa
Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
Correspondence: Satoko Minakawa, M.D., Ph.D., and Daisuke Sawamura, M.D., Ph.D., Department of Dermatology, Hirosaki University Graduate School of Medicine, 5 Zaifu-cho, Hirosaki, Aomori 036-8562, Japan. Emails: [email protected] and [email protected]Search for more papers by this authorTakahide Kaneko
Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
Search for more papers by this authorHironori Niizeki
Department of Dermatology, National Center for Child Health and Development, Tokyo, Japan
Search for more papers by this authorHiroki Mizukami
Department of Pathology and Molecular Medicine, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
Search for more papers by this authorYoko Saito
Department of Radiological Life Sciences, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
Search for more papers by this authorTakeshi Nigawara
Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
Search for more papers by this authorRie Kurose
Department of Orthopaedic Surgery, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
Search for more papers by this authorKazuhiko Nakabayashi
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan
Search for more papers by this authorKenji Kabashima
Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan
Search for more papers by this authorCorresponding Author
Daisuke Sawamura
Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
Correspondence: Satoko Minakawa, M.D., Ph.D., and Daisuke Sawamura, M.D., Ph.D., Department of Dermatology, Hirosaki University Graduate School of Medicine, 5 Zaifu-cho, Hirosaki, Aomori 036-8562, Japan. Emails: [email protected] and [email protected]Search for more papers by this authorCorresponding Author
Satoko Minakawa
Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
Correspondence: Satoko Minakawa, M.D., Ph.D., and Daisuke Sawamura, M.D., Ph.D., Department of Dermatology, Hirosaki University Graduate School of Medicine, 5 Zaifu-cho, Hirosaki, Aomori 036-8562, Japan. Emails: [email protected] and [email protected]Search for more papers by this authorTakahide Kaneko
Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
Search for more papers by this authorHironori Niizeki
Department of Dermatology, National Center for Child Health and Development, Tokyo, Japan
Search for more papers by this authorHiroki Mizukami
Department of Pathology and Molecular Medicine, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
Search for more papers by this authorYoko Saito
Department of Radiological Life Sciences, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
Search for more papers by this authorTakeshi Nigawara
Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
Search for more papers by this authorRie Kurose
Department of Orthopaedic Surgery, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
Search for more papers by this authorKazuhiko Nakabayashi
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan
Search for more papers by this authorKenji Kabashima
Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan
Search for more papers by this authorCorresponding Author
Daisuke Sawamura
Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
Correspondence: Satoko Minakawa, M.D., Ph.D., and Daisuke Sawamura, M.D., Ph.D., Department of Dermatology, Hirosaki University Graduate School of Medicine, 5 Zaifu-cho, Hirosaki, Aomori 036-8562, Japan. Emails: [email protected] and [email protected]Search for more papers by this author
References
- 1Sasaki T, Niizeki H, Shimizu A et al. Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis. J Dermatol Sci 2012; 68: 36–44.
- 2Niizeki H, Shiohama A, Sasaki T et al. The complete type of pachydermoperiostosis: a novel nonsense mutation p.E141* of the SLCO2A1 gene. J Dermatol Sci 2014; 95: 193–194.
- 3Zhang Z, He JW, Fu WZ, Zhang CQ, Zhang ZL. A novel mutation in the SLCO2A1 gene in a Chinese family with primary hypertrophic osteoarthropathy. Gene 2013; 521: 191–194.
10.1016/j.gene.2013.03.047 Google Scholar
- 4Cheng R, Li M, Guo Y, Yao Y, Gao C, Yao Z. Three novel mutations in the SLCO2A1 gene in two Chinese families with primary hypertrophic osteoarthropathy. Eur J Dermatol 2013; 23: 636–639.
- 5Madruga Dias JA, Rosa RS, Perpétuo I et al. Pachydermoperiostosis in an African patient caused by a Chinese/Japanese SLCO2A1 mutation-case report and review of literature. Semin Arthritis Rheum 2014; 43: 566–569.
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