Article ; Online: Clinical and genetic characteristics of the patients with hypertension and hypokalemia carrying a novel
Scandinavian journal of clinical and laboratory investigation
2022 , Page(s) 1–5
Abstract: The objective of this study was to clinically and genetically characterize a pedigree with Liddle syndrome (LS). A LS pedigree comprising with one proband and seven family members was enrolled. The subjects' symptoms, laboratory results and genotypes ... ...
Abstract | The objective of this study was to clinically and genetically characterize a pedigree with Liddle syndrome (LS). A LS pedigree comprising with one proband and seven family members was enrolled. The subjects' symptoms, laboratory results and genotypes were analyzed. Peripheral venous samples were collected from the subjects, and genomic DNA was extracted. DNA library construction and exome capture were performed on an Illumina HiSeq 4000 platform. The selected variant sites were validated using Sanger sequencing. The mutation effects were investigated using prediction tools. The proband and her paternal male family members had mild hypertension, hypokalemia and muscle weakness, including the absence of low renin and low aldosterone. Genetic analysis revealed that the proband carried a compound heterozygous mutation in |
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Language | English |
Publishing date | 2022-11-06 |
Publishing country | England |
Document type | Journal Article |
ZDB-ID | 3150-1 |
ISSN | 1502-7686 ; 0036-5513 |
ISSN (online) | 1502-7686 |
ISSN | 0036-5513 |
DOI | 10.1080/00365513.2022.2140454 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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