Analysis of pathogenic genes in two cases of Sj?gren-Larsson syndrome / 中华皮肤科杂志
Chinese Journal of Dermatology
; (12): 803-805, 2022.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-957745
Biblioteca responsável:
WPRO
ABSTRACT
Objective:
To detect pathogenic mutations in 2 patients with Sj?gren-Larsson syndrome.Methods:
Clinical data were collected from 2 children with Sj?gren-Larsson syndrome, who were diagnosed and treated in Department of Dermatology, Capital Institute of Pediatrics, and genetic testing was performed to clarify their pathogenic mutations.Results:
Both the 2 patients presented with typical ichthyosis-like skin manifestations, accompanied by a certain degree of intellectual disorder and growth, development and motor retardation. A previously reported homozygous mutation c.1157A>G was identified in the ALDH3A2 gene in case 1; compound heterozygous mutations c.1157A>G and c.1309A>T were identified in the ALDH3A2 gene in case 2, which were considered as novel pathogenic mutations.Conclusion:
Genetic testing should be performed as early as possible in patients with suspected Sj?gren-Larsson syndrome, in order to facilitate early definite diagnosis.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Chinese Journal of Dermatology
Ano de publicação:
2022
Tipo de documento:
Artigo