Analysis of genetic variant in a child with autosomal recessive Alport syndrome.
10.3760/cma.j.cn511374-20200713-00510
- VernacularTitle:一个常染色体隐性遗传型Alport综合征家系的基因变异分析
- Author:
Lan CHEN
1
;
Yiyan ZHANG
;
Weisheng LIN
Author Information
1. Zhongshan Affiliated Hospital of Xiamen University, Xiamen, Fujian 361004, China. 3210758996@qq.com.
- Publication Type:Journal Article
- MeSH:
Autoantigens/genetics*;
Child;
Collagen Type IV/genetics*;
Female;
Humans;
Male;
Mutation;
Nephritis, Hereditary/genetics*;
Pedigree
- From:
Chinese Journal of Medical Genetics
2021;38(10):947-950
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a pedigree affected with Alport syndrome.
METHODS:Next generation sequencing and Sanger sequencing was applied to detect potential variants of the COL4A3, COL4A4 and COL4A5 genes among members from the pedigree and 100 unrelated healthy controls.
RESULTS:The proband and his twin brother were found to carry two novel variants, namely c.4953G>A and c.4623C>A, of the COL4A4 gene, which were respectively inherited from her father and mother. The same variants were not detected among the 100 healthy controls and medical literature. Based on the guidelines of the American College of Medical Genetics and Genomics, both the c.4953G>A and c.4623C>A variants were predicted to be pathogenic (PVS1+PM2_supporting+PP1).
CONCLUSION:The c.4953G>A and c.4623C>A variants of the COLA4A gene probably underlay the Alport syndrome in this pedigree. Above finding has enriched the spectrum of COLA4A gene variants.
