Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated the Sixth People's Hospital, Shanghai 200233, 600 Yi-Shan Rd., PR China; Department of Orthopedic Surgery, Shanghai Jiao Tong University Affiliated the Sixth People's Hospital, Shanghai 200233, 600 Yi-Shan Rd., PR China.
Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated the Sixth People's Hospital, Shanghai 200233, 600 Yi-Shan Rd., PR China.
Gene. 2014 Jan 25;534(2):421-3. doi: 10.1016/j.gene.2013.10.051. Epub 2013 Nov 1.
Primary hypertrophic osteoarthropathy (PHO) is a rare monogenetic disease characterized by digital clubbing, periostosis and pachydermia. Mutations in the 15-hydroxy-prostaglandin dehydrogenase (HPGD) gene and solute carrier organic anion transporter family member 2A1 (SLCO2A1) gene have been shown to be associated with PHO. Here, we described clinical characteristics in a Chinese patient with PHO, and identified two novel mutations in SLCO2A1: a heterozygous guanine-to-thymidine transition at the invariant -1 position of the acceptor site of intron 2 (c.235-1G>T) and a heterozygous missense mutation p.Pro219Leu (c.656C>T) in exon 5.
原发性肥大性骨关节病（PHO）是一种罕见的单基因疾病，其特征为杵状指（趾）、骨膜增生和厚皮症。15-羟前列腺素脱氢酶（HPGD）基因和溶质载体有机阴离子转运蛋白家族成员 2A1（SLCO2A1）基因突变与 PHO 相关。在此，我们描述了一名中国 PHO 患者的临床特征，并在 SLCO2A1 中发现了两个新的突变：内含子 2 受体结合位点不变 -1 位的杂合鸟嘌呤到胸腺嘧啶转换（c.235-1G>T）和外显子 5 中的杂合错义突变 p.Pro219Leu（c.656C>T）。
