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

Autor:	Alban JJ; Fundación Valle del Lili, Center of Clinical Research, Cali, 760026, Colombia., Arango-Ramirez A; Fundación Valle del Lili, Center of Clinical Research, Cali, 760026, Colombia., Olave-Rodriguez JA; Faculty of Health Sciences, Icesi University, Cali, 760031, Colombia., Nastasi-Catanese JA; Faculty of Health Sciences, Icesi University, Cali, 760031, Colombia.; Fundación Valle del Lili, Department of Human Genetics, Cali, 760026, Colombia., Rodriguez LX; Faculty of Health Sciences, Icesi University, Cali, 760031, Colombia; lisa.rodriguez@fvl.org.co.; Fundación Valle del Lili, Department of Human Genetics, Cali, 760026, Colombia.
Jazyk:	angličtina
Zdroj:	Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2024 Jan 10; Vol. 9 (4). Date of Electronic Publication: 2024 Jan 10 (Print Publication: 2023).
DOI:	10.1101/mcs.a006291
Abstrakt:	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 homozygous variant in HPGD was subsequently reported. In reassessing the variant, the absence of this variant in the gnomAD population database, supporting computational predictions, observation in homozygosity in two probands, and specificity of the phenotype for HPGD , all provide sufficient evidence to reclassify the HPGD c.38C > A, p.Ala13Glu variant as likely pathogenic. (© 2023 Alban et al.; Published by Cold Spring Harbor Laboratory Press.)
Databáze:	MEDLINE
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