Use of targeted sequence capture and high-throughput sequencing identifies a novel PKD1 mutation involved in adult polycystic kidney disease

• Published in: Gene Vol. 634; pp. 1 - 4
• Main Authors: Sha, Yan-Kun, Sha, Yan-Wei, Mei, Li-Bin, Huang, Xian-Jing, Wang, Xu, Lin, Shao-Bin, Li, Lin, Li, Ping
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 15.11.2017
• Subjects: Adult; Autosomal dominant PKD; Exome; Female; Frameshift Mutation; Genetic Predisposition to Disease; High-Throughput Nucleotide Sequencing - methods; High-throughput sequencing; Humans; Male; Middle Aged; Pedigree; PKD1; Polycystic kidney disease; Polycystic Kidney, Autosomal Dominant - genetics; Sequence Analysis, DNA - methods; TRPP Cation Channels - genetics; Autosomal dominant PKD; ADPKD; High-throughput sequencing; PKD; PKD1; PCR; Polycystic kidney disease
• ISSN: 0378-1119; 1879-0038
• DOI: 10.1016/j.gene.2017.08.040

Polycystic kidney disease (PKD) is a common inherited disease that is characterized by a progressive development of renal cysts. Approximately 85% of PKD cases are due to mutations in the polycystin 1 (PKD1) gene. Here, we report a pedigree containing nine patients with autosomal dominant PKD (ADPKD). Using targeted exome sequencing of PKD1 and PKD2 genes, we identified a novel heterozygous frameshift mutation c.3976_3977insCT (p.F1326Sfs*21) in the PKD1 gene that segregated between affected and unaffected family members. This mutation is currently not present in the 1000 Genomes Project nor ExAC databases and is therefore a novel PKD1 mutation involved in ADPKD. These results provide a novel sequence variant for the genetic analysis of this disease. •We identified a novel mutation in PKD1 that causes polycystic kidney disease.•Targeted sequence capture and Sanger sequencing identified a heterozygous mutation in the PKD1 gene (c.3976_3977insCT:p.F1326Sfs*21).•The mutation segregated within the big pedigree.