Two novel mutations in the SLCO2A1 gene in a Chinese patient with primary hypertrophic osteoarthropathy

Gene. 2014 Jan 25;534(2):421-3. doi: 10.1016/j.gene.2013.10.051. Epub 2013 Nov 1.

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; 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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Asian People
  • Heterozygote
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation, Missense*
  • Organic Anion Transporters / genetics*
  • Osteoarthropathy, Primary Hypertrophic / genetics*
  • Sequence Analysis

Substances

  • Organic Anion Transporters
  • SLCO2A1 protein, human