Abstract:
BACKGROUND:Polycystic kidney disease (PKD) is the most common hereditary kidney disease. The main mutational genes causing autosomal dominant polycystic kidney disease (ADPKD) are PKD1 and PKD2 as well as some rare pathogenic genes. Unilateral PKD is rare in clinics, and its association with gene mutations is unclear. METHODS:Targeted next-generation sequencing (NGS) was performed to detect the renal ciliopathy-associated genes (targeted NGS panel including 63 genes) in PKD patients. RESULTS:Forty-eight PKD1 and PKD2 mutation sites were detected in 44 bilateral PKD patients, of which 48 were PKD1 mutation sites (87.5%) and six were PKD2 mutation sites (12.5%). All of which exhibited typical ADPKD. Furthermore, we detected HNF1B heterozygous mutations in three families. Although these three patients showed HNF1B heterozygous mutations, their clinical characteristics differed and showed phenotypic heterogeneity. CONCLUSIONS:Targeted NGS panel was helpful in detecting typical ADPKD patients and even in non-typical PKD patients. Macromutation in HNF1B may lead to bilateral PKD. The 16 novel PKD gene mutation sites and two novel PKD2 gene mutation sites discovered in this study have some significance in genetic counseling for ADPKD patients, and increase the number of studied families and expand the mutation database of ADPKD.
journal_name
Mol Genet Genomic Medjournal_title
Molecular genetics & genomic medicineauthors
Wang T,Li Q,Shang S,Geng G,Xie Y,Cai G,Chen Xdoi
10.1002/mgg3.720subject
Has Abstractpub_date
2019-06-01 00:00:00pages
e720issue
6issn
2324-9269journal_volume
7pub_type
杂志文章abstract:BACKGROUND:There have been many reports on midkine as a promising marker in the diagnosis of hepatocellular carcinoma (HCC). However, the results are inconsistent and even conflicting. METHODS:This meta-analysis was performed to investigate the accuracy of midkine in the diagnosis of HCC. Meta-DiSc 1.4 software was us...
journal_title:Molecular genetics & genomic medicine
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