Article
mRNA analysis identifies deep intronic variants causing Alport syndrome and overcomes the problem of negative results of exome sequencing.
Scientific reports - 10 Sept 2021
Wang Xiaoyuan, Zhang Yanqin, Ding Jie, Wang Fang
Abstract excerpt
Mutations in COL4A3, COL4A4 and COL4A5 genes lead to Alport syndrome (AS). However, pathogenic variants in some AS patients are not detected by exome sequencing. The aim of this study was to identify the underlying genetic causes of five unrelated AS probands with negative NGS test results. Urine COL4A3-5 mRNAs were analyzed in the probands with an uncertain inherited mode of AS, and COL4A5 mRNA of skin...
Topics
- Alleles
- Case-Control Studies
- Collagen Type IV
- Exome
- Female
- Genetic Association Studies
- Genetic Predisposition to Disease
- Genetic Variation
- Humans
- Introns
- Male
- Nephritis, Hereditary
- Pedigree
- RNA Splicing
- RNA, Messenger