Abstract：Objective To investigate the mutation of related genes and prenatal diagnosis of a family with Bartter syndrome (BS). Methods The high-throughput capture sequencing technique and PCR-Sanger sequencing were used to detect pathogenic genes in the proband of this family and analyze the whole family at the genomic level. After the genetic cause was clarified, the amniotic fluid was collected from the proband's mother who was pregnant for 5 months for prenatal diagnosis. Results The proband carried compound heterozygous mutations of c.88C > T (p.Arg30*) and c.968+2T > A in the CLCNKB gene; c.88C>T (p.Arg30*) had been reported as a pathogenic mutation, and c.968+2T > A was a new mutation. Pedigree analysis showed that the two mutations were inherited from the mother and father, respectively. Prenatal diagnosis showed that the fetus did not inherit the mutations from parents and had no mutations at the two loci. The follow-up visit confirmed that the infant was in a healthy state, which proved the accuracy of genetic diagnosis and prenatal diagnosis. Conclusions The compound heterozygous mutations c.88C>T (p.Arg30*) and c.968+2 T> A in the CLCNKB gene are the cause of BS in the proband, and prenatal diagnosis can prevent the risk of recurrence of BS in this family.
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