A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis.

ABSTRACT: Type III Bartter syndrome (BS), often known as classic Bartter syndrome is caused by variants in CLCNKB gene, which encoding the basolateral chloride channel protein ClC-Kb, and is characterized by renal salt wasting, hypokalemia, metabolic alkalosis, increased renin, and aldosterone levels. A 2-year-old boy presented severe malnutrition, severe metabolic alkalosis and severe hypokalemia and was clinically diagnosed with BS. The trio exome sequencing (ES) was performed to discover the genetic cause of this patient, followed by validation using Sanger sequencing and quantitative polymerase chain reaction subsequently. The genetic analysis indicated that this patient with a compound heterozygous variants of CLCNKB gene including a novel nonsense variant c.876 T > A and a whole-gene deleti

SUBMITTER: Zhao Q 

PROVIDER: S-EPMC9544217 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature