Genetic diagnosis of polycystic kidney disease, Alport syndrome and thalassemia minor in a large Chinese family

Conclusion : A novel pathogenic PKD1 mutation (c.3903delC) and a (--SEA) thalassemia deletion were found to be responsible for the clinical symptoms in this family. The reported pathogenic COL4a5 variant (c.2858G>T, rs78972735) wasn't pathogenic alone.

Source: Clinical Science - August 21, 2017 Category: Biomedical Science Authors: Miao, Y., Xiong, J., Zhang, X., Huang, H., Yu, L., Chen, J., Deng, W., Xu, H., Liu, R., Xu, X., Xiang, C., Xiong, F. Tags: PublishAheadOfPrint Source Type: research