Copyright
©The Author(s) 2018.
World J Nephrol. Mar 6, 2018; 7(2): 65-70
Published online Mar 6, 2018. doi: 10.5527/wjn.v7.i2.65
Published online Mar 6, 2018. doi: 10.5527/wjn.v7.i2.65
Table 2 Description of the most common pathogenic variants identified in autosomal dominant polycystic kidney disease samples
| Gene | DNA-level | Protein-level | Exon | Number of samples with mutation |
| PCM1 | c.3423dupC | p.Ser1142Glnfs*7 | 22 | 7 |
| KIF19 | c.49dupC | p.Arg17Profs*20 | 2 | 7 |
| CEP89 | c.412_413delAA | p.Lys138glyfs*16 | 4 | 5 |
| HTT | c.108_110delGCA | p.Gln2643del | 1 | 5 |
| ODF2 | c.1118delT | p.Leu373Tyrfs*80 | 10 | 5 |
- Citation: Skalická K, Hrčková G, Vaská A, Baranyaiová Á, Kovács L. Genetic defects in ciliary genes in autosomal dominant polycystic kidney disease. World J Nephrol 2018; 7(2): 65-70
- URL: https://www.wjgnet.com/2220-6124/full/v7/i2/65.htm
- DOI: https://dx.doi.org/10.5527/wjn.v7.i2.65