Article
A Hereditary Enteropathy Caused by Mutations in the SLCO2A1 Gene, Encoding a Prostaglandin Transporter.
PLoS genetics - 1 Nov 2015
Umeno Junji, Hisamatsu Tadakazu, Esaki Motohiro, Hirano Atsushi, Kubokura Naoya, Asano Kouichi, Kochi Shuji, Yanai Shunichi, Fuyuno Yuta, Shimamura Katsuyoshi, Hosoe Naoki, Ogata Haruhiko, Watanabe Takashi, Aoyagi Kunihiko, Ooi Hidehisa, Watanabe Kenji, Yasukawa Shigeyoshi, Hirai Fumihito, Matsui Toshiyuki, Iida Mitsuo, Yao Tsuneyoshi, Hibi Toshifumi, Kosaki Kenjiro, Kanai Takanori, Kitazono Takanari, Matsumoto Takayuki
Abstract excerpt
Previously, we proposed a rare autosomal recessive inherited enteropathy characterized by persistent blood and protein loss from the small intestine as chronic nonspecific multiple ulcers of the small intestine (CNSU). By whole-exome sequencing in five Japanese patients with CNSU and one unaffected individual, we found four candidate mutations in the SLCO2A1 gene, encoding a prostaglandin transporter. The...
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