Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease

• DOI: 10.1038/srep17468
• Publication Date: 2015-12-03T10:47:52Z
• Authors: Bei Liu; Song-Chang Chen; Yan-Mei Yang; Kai Yan; Ye-Qing Qian; Jun-Yu Zhang; Yu-Ting Hu; Min-Yue Dong; Fan Jin; He-Feng Huang; Chen-Ming Xu
• Keywords: PKD1; Nonsense mutation

Abstract 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 PKD genes 49 unrelated patients using direct PCR-sequencing multiplex ligation-dependent probe amplification (MLPA) for RT-PCR analysis was also a family with novel splicing mutation. Disease-causing were identified 44 (89.8%) patients: 42 (95.5%) showed 2 (4.5%) Ten nonsense, 17 frameshift, 4 in-frame mutation found 32 patients. Large rearrangements 3 missense 9 Approximately 61.4% (27/44) are first reported known rate 38.6%. RNA (c.595_595 + 14delGGTAAGAGCGCGCGA) suggested monoallelic expression wild-type allele. Furthermore, -truncating reached end-stage (ESRD) earlier than non-truncating (47 ± 3.522 years vs. 59 11.687 years, P = 0.016). The screening Chinese ADPKD will enrich our database significantly contribute to improve genetic counselling