Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease
| Autor: | Kai Yan, He-Feng Huang, Yuting Hu, Songchang Chen, Minyue Dong, Fan Jin, Jun-Yu Zhang, Bei Liu, Yeqing Qian, Chenming Xu, Yanmei Yang |
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| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
Adult
Male Mutation rate TRPP Cation Channels Autosomal dominant polycystic kidney disease Biology medicine.disease_cause urologic and male genital diseases Polymerase Chain Reaction Article Frameshift mutation Asian People medicine Missense mutation Humans Multiplex ligation-dependent probe amplification Allele Age of Onset Genetics Mutation Multidisciplinary PKD1 urogenital system Middle Aged medicine.disease Polycystic Kidney Autosomal Dominant Corrigenda female genital diseases and pregnancy complications Female |
| Zdroj: | Scientific Reports |
| ISSN: | 2045-2322 |
| DOI: | 10.1038/srep17468 |
| Popis: | Autosomal dominant polycystic kidney disease (ADPKD) is one of the most frequently inherited renal diseases caused by mutations in PKD1 and PKD2. We performed mutational analyses of PKD genes in 49 unrelated patients using direct PCR-sequencing and multiplex ligation-dependent probe amplification (MLPA) for PKD1 and PKD2. RT-PCR analysis was also performed in a family with a novel PKD2 splicing mutation. Disease-causing mutations were identified in 44 (89.8%) of the patients: 42 (95.5%) of the patients showed mutations in PKD1 and 2 (4.5%) showed mutations in PKD2. Ten nonsense, 17 frameshift, 4 splicing and one in-frame mutation were found in 32 of the patients. Large rearrangements were found in 3 patients and missense mutations were found in 9 patients. Approximately 61.4% (27/44) of the mutations are first reported with a known mutation rate of 38.6%. RNA analysis of a novel PKD2 mutation (c.595_595 + 14delGGTAAGAGCGCGCGA) suggested monoallelic expression of the wild-type allele. Furthermore, patients with PKD1-truncating mutations reached end-stage renal disease (ESRD) earlier than patients with non-truncating mutations (47 ± 3.522 years vs. 59 ± 11.687 years, P = 0.016). The mutation screening of PKD genes in Chinese ADPKD patients will enrich our mutation database and significantly contribute to improve genetic counselling for ADPKD patients. |
| Databáze: | OpenAIRE |
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