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Two novel mutations in the SLCO2A1 gene in a Chinese patient with primary hypertrophic osteoarthropathy |
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| Authors: | Zeng Zhang Jin-Wei He Wen-Zhen Fu Chang-Qing Zhang Zhen-Lin Zhang |
| Institution: | 1. 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;2. Department of Orthopedic Surgery, Shanghai Jiao Tong University Affiliated the Sixth People''s Hospital, Shanghai 200233, 600 Yi-Shan Rd., PR China |
| Abstract: | 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. |
| Keywords: | HGMD Human Gene Mutation Database HPGD Hydroxyprostaglandin dehydrogenase 15-(NAD) PCR Polymerase chain reaction PGE2 Prostaglandin E2 PGE-M Prostaglandin E metabolite PGT Prostaglandin transporter PHO Primary hypertrophic osteoarthropathy PHOAR1 Primary hypertrophic osteoathropathy autosomal recessive 1 PHOAR2 Primary hypertrophic osteoathropathy autosomal recessive 2 SLCO2A1 Solute carrier organic anion transporter family member 2A1 |
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