Splicing Characterization of
CLCNKB
abnormal RNA splicing
classical Bartter syndrome
hypokalemia
synonymous variant
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2020
2020
Historique:
received:
27
09
2019
accepted:
24
01
2020
entrez:
11
3
2020
pubmed:
11
3
2020
medline:
11
3
2020
Statut:
epublish
Résumé
Type III Bartter syndrome (BS) is caused by loss-of-function mutations in the gene encoding basolateral chloride channel ClC-Kb ( The genomic DNA of the four patients was screened for gene variations using whole-exome sequencing (WES). The candidate variants were validated by direct Sanger sequencing. Quantitative PCR (qPCR) was subsequently performed to confirm the whole Our patients showed early onset age with hyponatremia, hypokalemia, hypochloremia, repeated vomiting and growth retardation, suggesting Bartter syndrome. Genetic analysis revealed that all patients carried compound heterozygous or homozygous truncating variants in the Our results support that the whole
Identifiants
pubmed: 32153641
doi: 10.3389/fgene.2020.00081
pmc: PMC7047732
doi:
Types de publication
Journal Article
Langues
eng
Pagination
81Informations de copyright
Copyright © 2020 Wang, Han, Zhou, Zheng, Zhou, Bao, Jia, Zhang, Huang, Ding and Zhao.
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