A case of classical Vohwinkel syndrome caused by the mutation p.N54H in the GJB2 gene / 中华皮肤科杂志
Chinese Journal of Dermatology
;
(12): 669-672, 2023.
Artículo
en Chino
| WPRIM
| ID: wpr-994519
ABSTRACT
Objective:
To detect gene mutations in 1 patient with Vohwinkel syndrome who presented with palmoplantar keratoderma, pseudo-ainhum and deafness.Methods:
Clinical data were collected from the proband, and a genetic test was performed to identify mutation sites.Results:
Clinical manifestations of the proband were consistent with classical Vohwinkel syndrome. The genetic test revealed a heterozygous mutation c.160A>C (p.N54H) in the GJB2 gene, which was not detected in her parents or healthy controls.Conclusion:
The heterozygous mutation c.160A>C (p.N54H) in the GJB2 gene was first identified in a patient with classical Vohwinkel syndrome, and there were overlaps in mutation sites between classical Vohwinkel syndrome and palmoplantar keratoderma with deafness.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Idioma:
Chino
Revista:
Chinese Journal of Dermatology
Año:
2023
Tipo del documento:
Artículo
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