Analysis of pathogenic genes in two cases of Sj?gren-Larsson syndrome
- VernacularTitle:Sj?gren-Larsson综合征致病基因位点分析
- Author:
Jiancai WANG
1
;
Ying GAO
;
Xiaoyan LIU
Author Information
- Keywords: Mutation; Sequence analysis, DNA; Sj?gren-Larsson syndrome; Spastic paraplegia; ALDH3A2 gene
- From: Chinese Journal of Dermatology 2022;55(9):803-805
- CountryChina
- Language:Chinese
- 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.
