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Primary hypertrophic osteoarthropathy: phenotypic variability and penetrance rate in heterozygotes for SLCO2A1 variants

28 Feb 2025

Abstract excerpt

Abstract Background Primary hypertrophic osteoarthropathy (PHO) is a rare autosomal recessive disease caused by pathogenic variants (PVs) in HPGD and SLCO2A1 genes whose phenotypes were, respectively, designated as PHOAR1 and PHOAR2. Recently, a dominantly inherited form (PHOAD) was identified in SLCO2A1 heterozygous whose PHO penetrance is widely unknown and data on phenotype are markedly limited. We intended to...

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PMID: 40144454
DOI: 10.1093/jbmrpl/ziaf026

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