Identification of the Mutations in the Prostaglandin Transporter Gene,SLCO2A1and Clinical Characterization in Korean Patients with Pachydermoperiostosis

• DOI: 10.3346/jkms.2016.31.5.735
• Publication Date: 2016-04-12T06:05:04Z
• Authors: Sihoon Lee; So Young Park; Hyun Jin Kwon; Chul-Ho Lee; Ok-Hwa Kim; Yumie Rhee
• Keywords: Compound heterozygosity; Penetrance

Pachydermoperiostosis (PDP), or primary hypertrophic osteoarthropathy, is a rare genetic disease affecting both skin and bones. Both autosomal dominant with incomplete penetrance recessive inheritance of PDP have been previously confirmed. Recently, hydroxyprostaglandin dehydrogenase (HPGD) solute carrier organic anion transporter family member 2A1 (SLCO2A1) were reported as pathogenic genes responsible for PDP. are involved in prostaglandin E2 (PGE2) degradation. We aimed to identify the clinical features Korean patients Six affected individuals their available healthy members from three unrelated families studied. All displayed complete phenotypes finger clubbing, pachydermia, periostosis. Mutation analysis revealed novel heterozygous mutation SLCO2A1 gene at nucleotide 302 causing substitution amino acid isoleucine serine codon 101 (p.IIe101Ser) individuals. also identified known mutations, one homozygous c.940+1G>A, another compound c.940+1G>A c.1807C>T (p.Arg603*) two families. Genetic analyses showed no abnormality HPGD gene. Our study further supports role mutations pathogenesis could provide additional clues genotype-phenotype relations