title: Two novel mutations in the SLCO2A1 gene in a Chinese patient with primary hypertrophic osteoarthropathy.
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.
authors.affiliation: 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.
authors.forename: Zeng
authors.initials: Z
authors.lastname: Zhang
authors.affiliation: 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.
authors.forename: Jin-Wei
authors.initials: JW
authors.lastname: He
authors.affiliation: 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.
authors.forename: Wen-Zhen
authors.initials: WZ
authors.lastname: Fu
authors.affiliation: Department of Orthopedic Surgery, Shanghai Jiao Tong University Affiliated the Sixth People's Hospital, Shanghai 200233, 600 Yi-Shan Rd., PR China.
authors.forename: Chang-Qing
authors.initials: CQ
authors.lastname: Zhang
authors.affiliation: 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. Electronic address: zzl2002@medmail.com.cn.
authors.forename: Zhen-Lin
authors.initials: ZL
authors.lastname: Zhang
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D044466:Asian People; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D027361:Organic Anion Transporters / Q000235:genetics*; D010004:Osteoarthropathy, Primary Hypertrophic / Q000235:genetics*; D017421:Sequence Analysis
chemical_list: D027361:Organic Anion Transporters; C503526:SLCO2A1 protein, human
keywords: HGMD; HPGD; Human Gene Mutation Database; Hydroxyprostaglandin dehydrogenase 15-(NAD); PCR; PGE-M; PGE2; PGEM; PGT; PHO; PHOAR1; PHOAR2; Pachydermoperiostosis; Polymerase chain reaction; Primary hypertrophic osteoarthropathy; Primary hypertrophic osteoathropathy autosomal recessive 1; Primary hypertrophic osteoathropathy autosomal recessive 2; Prostaglandin E metabolite; Prostaglandin E2; Prostaglandin transporter; SLCO2A1; Solute carrier organic anion transporter family, member 2A1; Transporter