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

作者：Sha, Yan-Kun; Sha, Yan-Wei; Mei, Li-Bin; Huang, Xian-Jing; Wang, Xu; Lin, Shao-Bin; Li, Lin^*; Li, Ping^*

来源：Gene, 2017, 634: 1-4.

DOI：10.1016/j.gene.2017.08.040

• Polycystic kidney disease
• PICD1
• High-throughput sequencing
• Autosomal dominant MD

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 (PKDI) gene. Here, we report a pedigree containing nine patients with autosomal dominant PKD (ADPKD). Using targeted exome sequencing of PKDI 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 PKDI mutation involved in ADPKD. These results provide a novel sequence variant for the genetic analysis of this disease.

• 出版日期2017-11-15
• 单位厦门市妇幼保健院; 锦州医科大学; 首都医科大学