Article
A novel mutation in the SLCO2A1 gene, encoding a prostaglandin transporter, induces chronic enteropathy.
PloS one - 1 Jan 2020
Jimbo Keisuke, Okuno Toshiaki, Ohgaki Ryuichi, Nishikubo Kou, Kitamura Yuri, Sakurai Yumiko, Quan Lili, Shoji Hiromichi, Kanai Yoshikatsu, Shimizu Toshiaki, Yokomizo Takehiko
Abstract excerpt
Chronic enteropathy associated with SLCO2A1 gene (CEAS) is caused by loss-of-function mutations in SLCO2A1, which encodes a prostaglandin (PG) transporter. In this study, we report a sibling case of CEAS with a novel pathogenic variant of the SLCO2A1 gene. Compound heterozygous variants in SLCO2A1 were identified in an 8-year-old boy and 12-year-old girl, and multiple chronic nonspecific ulcers were observed in...
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