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Gene. 2017 Nov 15;634:1-4. doi: 10.1016/j.gene.2017.08.040. Epub 2017 Sep 1.

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

Author information

1
Department of Nephrology, The First Affiliated Hospital of Jinzhou Medical University, Jinzhou 361003, China.
2
Department of Reproductive Medicine, Xiamen Maternal and Child Care Hospital, Xiamen 361005, China.
3
Central Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China. Electronic address: linlithu@163.com.
4
Department of Reproductive Medicine, Xiamen Maternal and Child Care Hospital, Xiamen 361005, China. Electronic address: saarc2001@sina.com.

Abstract

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.

KEYWORDS:

Autosomal dominant PKD; High-throughput sequencing; PKD1; Polycystic kidney disease

PMID:
28870863
DOI:
10.1016/j.gene.2017.08.040
[Indexed for MEDLINE]

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