Reclassification of the HPGD p.Ala13Glu variant causing primary hypertrophic osteoarthropathy.
Cold Spring Harb Mol Case Stud
; 9(4)2023 Dec.
Article
em En
| MEDLINE
| ID: mdl-37591693
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osteoartropatia Hipertrófica Primária
Limite:
Humans
/
Male
Idioma:
En
Revista:
Cold Spring Harb Mol Case Stud
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Colômbia
País de publicação:
Estados Unidos