{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["24(1)"],"submitter":["Mettananda S"],"pubmed_abstract":["<h4>Background</h4>The SLCO2A1 gene encodes a prostaglandin transporter and we report a novel mutation causing hypoproteinaemia and refractory anaemia due to chronic enteropathy.<h4>Case presentation</h4>An 18-year-old boy of consanguineous parents was investigated for hypoproteinaemia and anaemia. He was short, pale and had generalised oedema. Investigations revealed haemoglobin 5.8 g/dL; hypochromic microcytic anaemia; low serum protein, albumin, globulin, ferritin and iron. Bone marrow aspiration revealed low iron stores. Upper and lower gastrointestinal endoscopies showed moderate gastritis, duodenitis, and non-specific patchy inflammation in the rectum. The whole exome sequencing revealed a homozygous missense mutation in SCLO2A1 gene (NP_005621.2:p.Arg97Cys; rs761212094). Sanger sequ"],"journal":["BMC pediatrics"],"pagination":["751"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11577863"],"repository":["biostudies-literature"],"pubmed_title":["A novel mutation in the SLCO2A1 gene presenting as persistent hypoproteinaemia and refractory iron deficiency anaemia due to chronic enteropathy: a case report."],"pmcid":["PMC11577863"],"pubmed_authors":["Padeniya P","Mettananda S","Rajeindran M","Bandara P"],"additional_accession":[]},"is_claimable":false,"name":"A novel mutation in the SLCO2A1 gene presenting as persistent hypoproteinaemia and refractory iron deficiency anaemia due to chronic enteropathy: a case report.","description":"<h4>Background</h4>The SLCO2A1 gene encodes a prostaglandin transporter and we report a novel mutation causing hypoproteinaemia and refractory anaemia due to chronic enteropathy.<h4>Case presentation</h4>An 18-year-old boy of consanguineous parents was investigated for hypoproteinaemia and anaemia. He was short, pale and had generalised oedema. Investigations revealed haemoglobin 5.8 g/dL; hypochromic microcytic anaemia; low serum protein, albumin, globulin, ferritin and iron. Bone marrow aspiration revealed low iron stores. Upper and lower gastrointestinal endoscopies showed moderate gastritis, duodenitis, and non-specific patchy inflammation in the rectum. The whole exome sequencing revealed a homozygous missense mutation in SCLO2A1 gene (NP_005621.2:p.Arg97Cys; rs761212094). Sanger sequ","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Nov","modification":"2026-06-02T04:33:24.344Z","creation":"2025-04-04T23:32:25.022Z"},"accession":"S-EPMC11577863","cross_references":{"pubmed":["39563252"],"doi":["10.1186/s12887-024-05252-6"]}}