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Exome Sequencing Identifies SLCO2A1 Mutations as a Cause of Primary Hypertrophic Osteoarthropathy
- Source :
- The American Journal of Human Genetics. 90:125-132
- Publication Year :
- 2012
- Publisher :
- Elsevier BV, 2012.
-
Abstract
- By using whole-exome sequencing, we identified a homozygous guanine-to-adenine transition at the invariant -1 position of the acceptor site of intron 1 (c.97-1GA) in solute carrier organic anion transporter family member 2A1 (SLCO2A1), which encodes a prostaglandin transporter protein, as the causative mutation in a single individual with primary hypertrophic osteoarthropathy (PHO) from a consanguineous family. In two other affected individuals with PHO from two unrelated nonconsanguineous families, we identified two different compound heterozygous mutations by using Sanger sequencing. These findings confirm that SLCO2A1 mutations inactivate prostaglandin E(2) (PGE(2)) transport, and they indicate that mutations in SLCO2A1 are the pathogenic cause of PHO. Moreover, this study might also help to explain the cause of secondary hypertrophic osteoarthropathy.
- Subjects :
- Adult
Male
Adolescent
Osteoarthropathy, Primary Hypertrophic
DNA Mutational Analysis
Molecular Sequence Data
Organic Anion Transporters
medicine.disease_cause
Compound heterozygosity
Dinoprostone
Young Adult
symbols.namesake
Asian People
Report
Genetics
medicine
Humans
Exome
Genetics(clinical)
Primary Hypertrophic Osteoarthropathy
Child
Genetics (clinical)
Exome sequencing
SLCO2A1
Sanger sequencing
Mutation
Base Sequence
biology
biology.organism_classification
Molecular biology
Pedigree
Pachydermia
symbols
biology.protein
Female
Subjects
Details
- ISSN :
- 00029297
- Volume :
- 90
- Database :
- OpenAIRE
- Journal :
- The American Journal of Human Genetics
- Accession number :
- edsair.doi.dedup.....6dc0fdd9f5871dff7d9b0f179488d3c5