Identification of mutations in the prostaglandin transporter gene SLCO2A1 and phenotypic comparison between two subtypes of primary hypertrophic osteoarthropathy (PHO): A single-center study

被引：28

作者：

Hou, Yanfang ^{[1
,2
]}

Lin, Yuanyuan ^{[1
]}

Qi, Xuan ^{[1
]}

Yuan, Lu ^{[1
]}

Liao, Ruoxi ^{[1
]}

Pang, Qianqian ^{[1
]}

Cui, Lijia ^{[1
]}

Jiang, Yan ^{[1
]}

Wang, Ou ^{[1
]}

Li, Mei ^{[1
]}

Dong, Jin ^{[2
]}

Xia, Weibo ^{[1
]}

机构：

[1] Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Key Lab Endocrinol,Minist Hlth, Shuaifuyuan 1, Beijing 100730, Peoples R China

[2] Shanxi Med Univ, Dept Endocrinol, Affiliated Hosp 1, Taiyuan 030001, Shanxi, Peoples R China

来源：

BONE | 2018年 / 106卷

基金：

北京市自然科学基金; 中国国家自然科学基金;

关键词：

Primary hypertrophic osteoarthropathy; SLCO2A1; Phenotypic comparison; HEMATOPOIETIC STEM-CELL;

D O I：

10.1016/j.bone.2017.09.015

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Primary hypertrophic osteoarthropathy (PHO) is an inherited disease characterized by digital clubbing, periostosis, and pachydermia. Based. on two causative genes, hydroxyprostaglandin dehydrogenase (HPGD) and solute carrier organic anion transporter family member 2A1 (SLCO2A1), PHO is categorized into two subtypes: hypertrophic osteoarthropathy, primary, autosomal recessive 1 (PHOAR1) and hypertrophic osteoarthropathy, primary, autosomal recessive 2 (PHOAR2). In this study, we summarized the clinical manifestations and analyzed SLCO2A1 gene in 23 PHOAR2 patients in our center. As a result, 18 patients displayed complete phenotypes of PHO with digital clubbing, periostosis, and pachydermia. 29 mutations were found in total, and 22 of them were novel mutations including 13 missense, three nonsense, four deletion, one frame-shift and one splicing site mutations. Compared with nine PHOAR1 patients we previously reported, PHO patients with SLCO2A1 mutations were all male and presented with a later onset age. Peptic ulcers and myelofibrosis occurred only in PHOAR2 patients. The urinary level of prostaglandin E2 metabolite (PGEM) is significantly higher in PHOAR2 patients than that in PHOAR1 group. In conclusion, this study was the largest cohort to date to summarize PHOAR2 patients and to assess the phenotypic difference between two subtypes of PHO. The difference of urinary PGEM concentration between two subtypes is helpful for the differential diagnosis of PHO. (C) 2017 Elsevier Inc. All rights reserved.

引用

页码：96 / 102

页数：7

共 24 条

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