OBJECTIVETo explore the genetic etiology of two Chinese pedigrees affected with autosomal dominant adult polycystic kidney disease and male infertility.

METHODSThe coding regions of the PKD1 and PKD2 genes were subjected to PCR and Sanger sequencing. Suspected pathogenic mutations were analyzed by pedigree analysis and bioinformatics analysis. Mutation screening was performed using Sanger sequencing of blood samples obtained from 50 healthy individuals.

RESULTSTwo novel heterozygous mutations, c.6953_6977 del(p.Arg2318Hisfs*15) and c.10937T>G (p.Val3646Gly) of the PKD1 gene were identified in the affected members of the two pedigrees, respectively, but not among to normal family members of the two pedigrees. Pedigree and bioinformatics analysis showed that both mutations were pathogenic. No pathological mutations were found in the cohort of 50 healthy individuals.

CONCLUSIONTwo novel mutations, c.6953_6977del(p.Arg2318Hisfs*15) and c.10937T>G (p.Val3646Gly) of the PKD1 gene may be responsible for the disease in the two pedigrees, which have enriched the spectrum of PKD1 gene mutations and provided a basis for genetic counseling and prenatal disgnosis.