BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is a delayed-onset renal disorder that results from a mutation in the PKD1 or PKD2 genes. Autosomal dominant polycystic kidney disease results in end-stage renal disease due to renal cystic dysplasia. The aim of this study was to evaluate, by exon sequencing, the disease-causing variants of PKD2 (exons 4, 6, and 8) in Iranian ADPKD patients. METHODS: Genomic DNA was extracted from 3-5 ml of peripheral blood by the salting-out method. PKD2 exons 4, 6, and 8 were PCR-amplified and sequenced. RESULTS: Three disease-causing PKD2 variants were identified; all three were missense mutations in exon 4. The mutations were AGC → ACC (c.893G>C, cDNA.959G>C, S298T), TAC → TTC (c.1043A>T, cDNA.1109 A>T, Y348F), and GAA → GAT (c.1059A>T, cDNA.1125 A>T, E353D. These novel pathogenic variants may cause loss of the normal protein function. CONCLUSION: Our results suggest that AGC → ACC (c.893G>C, cDNA.959G>C, S298T), TAC → TTC (c.1043A>T, cDNA.1109 A>T, Y348F), and GAA → GAT (c.1059A>T, cDNA.1125 A>T, E353D variants are common in Iranian ADPKD patients. These mutations modify the transmembrane domain and likely influence PC2 function.
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is a delayed-onset renal disorder that results from a mutation in the PKD1 or PKD2 genes. Autosomal dominant polycystic kidney disease results in end-stage renal disease due to renal cystic dysplasia. The aim of this study was to evaluate, by exon sequencing, the disease-causing variants of PKD2 (exons 4, 6, and 8) in Iranian ADPKD patients. METHODS: Genomic DNA was extracted from 3-5 ml of peripheral blood by the salting-out method. PKD2 exons 4, 6, and 8 were PCR-amplified and sequenced. RESULTS: Three disease-causing PKD2 variants were identified; all three were missense mutations in exon 4. The mutations were AGC → ACC (c.893G>C, cDNA.959G>C, S298T), TAC → TTC (c.1043A>T, cDNA.1109 A>T, Y348F), and GAA → GAT (c.1059A>T, cDNA.1125 A>T, E353D. These novel pathogenic variants may cause loss of the normal protein function. CONCLUSION: Our results suggest that AGC → ACC (c.893G>C, cDNA.959G>C, S298T), TAC → TTC (c.1043A>T, cDNA.1109 A>T, Y348F), and GAA → GAT (c.1059A>T, cDNA.1125 A>T, E353D variants are common in Iranian ADPKD patients. These mutations modify the transmembrane domain and likely influence PC2 function.
Authors: T Mochizuki; G Wu; T Hayashi; S L Xenophontos; B Veldhuisen; J J Saris; D M Reynolds; Y Cai; P A Gabow; A Pierides; W J Kimberling; M H Breuning; C C Deltas; D J Peters; S Somlo Journal: Science Date: 1996-05-31 Impact factor: 47.728
Authors: María V Irazabal; Laureano J Rangel; Eric J Bergstralh; Sara L Osborn; Amber J Harmon; Jamie L Sundsbak; Kyongtae T Bae; Arlene B Chapman; Jared J Grantham; Michal Mrug; Marie C Hogan; Ziad M El-Zoghby; Peter C Harris; Bradley J Erickson; Bernard F King; Vicente E Torres Journal: J Am Soc Nephrol Date: 2014-06-05 Impact factor: 10.121
Authors: N Hateboer; B Veldhuisen; D Peters; M H Breuning; J L San-Millán; N Bogdanova; E Coto; M A van Dijk; A R Afzal; S Jeffery; A K Saggar-Malik; R Torra; D Dimitrakov; I Martinez; S S de Castro; M Krawczak; D Ravine Journal: Kidney Int Date: 2000-04 Impact factor: 10.612