Use of targeted sequence capture and high-throughput sequencing identifies a novel PKD1 mutation involved in adult polycystic kidney disease
作者： Yan-Kun Sha , Yan-Wei Sha , Li-Bin Mei , Xian-Jing Huang , Xu Wang
DOI: 10.1016/J.GENE.2017.08.040
关键词:
摘要: Polycystic kidney disease (PKD) is a common inherited that characterized by progressive development of renal cysts. Approximately 85% PKD cases are due to mutations in the polycystin 1 (PKD1) gene. Here, we report pedigree containing nine patients with autosomal dominant (ADPKD). Using targeted exome sequencing PKD1 and PKD2 genes, identified novel heterozygous frameshift mutation c.3976_3977insCT (p.F1326Sfs*21) gene segregated between affected unaffected family members. This currently not present 1000 Genomes Project nor ExAC databases therefore involved ADPKD. These results provide sequence variant for genetic analysis this disease.
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