Sha Yan-Kun, Sha Yan-Wei, Mei Li-Bin, Huang Xian-Jing, Wang Xu, Lin Shao-Bin, Li Lin, Li Ping
Department of Nephrology, The First Affiliated Hospital of Jinzhou Medical University, Jinzhou 361003, China.
Department of Reproductive Medicine, Xiamen Maternal and Child Care Hospital, Xiamen 361005, China.
Gene. 2017 Nov 15;634:1-4. doi: 10.1016/j.gene.2017.08.040. Epub 2017 Sep 1.
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.
多囊肾病（PKD）是一种常见的遗传性疾病，其特征是肾囊肿进行性发展。大约85%的PKD病例是由于多囊蛋白1（PKD1）基因突变所致。在此，我们报告一个包含9例常染色体显性多囊肾病（ADPKD）患者的家系。通过对PKD1和PKD2基因进行靶向外显子测序，我们在PKD1基因中鉴定出一个新的杂合移码突变c.3976_3977insCT（p.F1326Sfs*21），该突变在患病和未患病家庭成员之间呈分离状态。此突变目前在千人基因组计划和ExAC数据库中均不存在，因此是一个与ADPKD相关的新的PKD1突变。这些结果为该疾病的遗传分析提供了一个新的序列变异。
