Reclassification of the HPGD p.Ala13Glu variant causing primary hypertrophic osteoarthropathy.
Cold Spring Harb Mol Case Stud
; 9(4)2023 Dec.
Article
en En
| MEDLINE
| ID: mdl-37591693
ABSTRACT
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Osteoartropatía Hipertrófica Primaria
Límite:
Humans
/
Male
Idioma:
En
Revista:
Cold Spring Harb Mol Case Stud
Año:
2023
Tipo del documento:
Article
País de afiliación:
Colombia