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Article

Reclassification of the HPGD p.Ala13Glu variant causing primary hypertrophic osteoarthropathy.

Cold Spring Harbor molecular case studies - 1 Dec 2023

Alban Juan J, Arango-Ramirez Alejandra, Olave-Rodriguez Jorge A, Nastasi-Catanese Jose A, Rodriguez Lisa X

Abstract excerpt

Here, we highlight the case of a 31-yr-old man who had clinical features of primary hypertrophic osteoarthropathy (PHOAR) and harbored a homozygous variant (c.38C > A, p.Ala13Glu) in the HPGD gene, as indicated by whole-exome sequencing (WES). This variant has been previously classified by our laboratory as a variant of uncertain significance (VUS). However, another patient with the same phenotype and the same...

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PMID: 37591693
DOI: 10.1101/mcs.a006291
PMCID: PMC10815292

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