{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:16:56Z","timestamp":1784557016507,"version":"3.55.0"},"reference-count":57,"publisher":"Bioscientifica","issue":"11","license":[{"start":{"date-parts":[[2018,11,1]],"date-time":"2018-11-01T00:00:00Z","timestamp":1541030400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["ec.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:p>\n                    Primary hypertrophic osteoarthropathy (PHO) is a rare familial disorder with reduced penetrance for females. The genetic mutations associated with PHO have been identified in\n                    <jats:italic>HPGD<\/jats:italic>\n                    and\n                    <jats:italic>SLCO2A1<\/jats:italic>\n                    , which involved in prostaglandin E2 metabolism. Here, we report 5 PHO patients from four non-consanguineous families. Two heterozygous mutations in solute carrier organic anion transporter family member 2A1 (\n                    <jats:italic>SLCO2A1<\/jats:italic>\n                    ) were identified in two brothers by whole-exome sequencing. Three heterozygous mutations and one homozygous mutation were identified in other three PHO families by Sanger sequencing. However, there was no mutation in\n                    <jats:italic>HPGD<\/jats:italic>\n                    . These findings confirmed that homozygous or compound heterozygous mutations of\n                    <jats:italic>SLCO2A1<\/jats:italic>\n                    were the pathogenic cause of PHO. A female individual shared the same mutations in\n                    <jats:italic>SLCO2A1<\/jats:italic>\n                    with her PHO brother but did not have any typical PHO symptoms. The influence of sex hormones on the pathogenesis of PHO and its implication were discussed.\n                  <\/jats:p>","DOI":"10.1530\/ec-18-0326","type":"journal-article","created":{"date-parts":[[2018,8,31]],"date-time":"2018-08-31T10:10:52Z","timestamp":1535710252000},"page":"1116-1128","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-10","source":"Crossref","is-referenced-by-count":14,"title":["Novel SLCO2A1 mutations cause gender-differentiated pachydermoperiostosis"],"prefix":"10.1530","volume":"7","author":[{"given":"Lijuan","family":"Yuan","sequence":"first","affiliation":[{"name":"1Department of Biochemistry and Molecular Biology, Center for DNA Typing, Air Force Medical University, Xi\u2019an, Shaanxi, People\u2019s Republic of China"},{"name":"2Department of General Surgery, Tangdu Hospital, Air Force Medical University, Xi\u2019an, Shaanxi, People\u2019s Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xihui","family":"Chen","sequence":"additional","affiliation":[{"name":"1Department of Biochemistry and Molecular Biology, Center for DNA Typing, Air Force Medical University, Xi\u2019an, Shaanxi, People\u2019s Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ziyu","family":"Liu","sequence":"additional","affiliation":[{"name":"3Department of Microbiology, Air Force Medical University, Xi\u2019an, Shaanxi, People\u2019s Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Wu","sequence":"additional","affiliation":[{"name":"1Department of Biochemistry and Molecular Biology, Center for DNA Typing, Air Force Medical University, Xi\u2019an, Shaanxi, People\u2019s Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianguo","family":"Lu","sequence":"additional","affiliation":[{"name":"2Department of General Surgery, Tangdu Hospital, Air Force Medical University, Xi\u2019an, Shaanxi, People\u2019s Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guoqiang","family":"Bao","sequence":"additional","affiliation":[{"name":"2Department of General Surgery, Tangdu Hospital, Air Force Medical University, Xi\u2019an, Shaanxi, People\u2019s Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sijia","family":"Zhang","sequence":"additional","affiliation":[{"name":"1Department of Biochemistry and Molecular Biology, Center for DNA Typing, Air Force Medical University, Xi\u2019an, Shaanxi, People\u2019s Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lifeng","family":"Wang","sequence":"additional","affiliation":[{"name":"4Department of Biochemistry and Molecular Biology, Air Force Medical University, Xi\u2019an, Shaanxi, People\u2019s Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanming","family":"Wu","sequence":"additional","affiliation":[{"name":"1Department of Biochemistry and Molecular Biology, Center for DNA Typing, Air Force Medical University, Xi\u2019an, Shaanxi, People\u2019s Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"ref341","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1016\/j.bone.2017.09.015","article-title":"Identification of mutations in the prostaglandin transporter gene SLCO2A1 and phenotypic comparison between two subtypes of primary hypertrophic osteoarthropathy (PHO): A single-center study","volume":"106","year":"2018","journal-title":"Bone"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.ajhg.2011.11.019","article-title":"Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic 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transporter mutations cause pachydermoperiostosis with myelofibrosis","volume":"33","year":"2012","journal-title":"Human Mutation"},{"key":"ref91","doi-asserted-by":"crossref","first-page":"1539","DOI":"10.1007\/s00296-014-3037-8","article-title":"Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family: changing clinical and radiological findings with long-term follow-up","volume":"34","year":"2014","journal-title":"Rheumatology International"},{"key":"ref81","doi-asserted-by":"crossref","first-page":"1659","DOI":"10.1002\/jbmr.3157","article-title":"Clinical, biochemical, and genetic features of 41 Han Chinese families with primary hypertrophic osteoarthropathy, and their therapeutic response to etoricoxib: results from a six-month prospective clinical intervention","volume":"32","year":"2017","journal-title":"Journal of Bone and Mineral Research"},{"key":"ref301","doi-asserted-by":"publisher","first-page":"201398","DOI":"10.1210\/jc.2012-3568","article-title":"ZhangZHeJWFuWZZhangCQZhangZL Mutations in the gene and primary hypertrophic osteoarthropathy : a clinical and biochemical characterization of and https org","volume":"2","author":"SLCO","journal-title":"Journal Clinical Endocrinology Metabolism"},{"key":"ref321","doi-asserted-by":"crossref","first-page":"2977","DOI":"10.3892\/mmr.2017.6391","article-title":"Identification of two novel mutations in the SLCO2A1 prostaglandin transporter gene in a Chinese patient with primary hypertrophic osteoarthropathy","volume":"15","year":"2017","journal-title":"Molecular Medicine Reports"}],"container-title":["Endocrine 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