A novel heterozygous PKD1 variant causing alternative splicing in a Chinese family with autosomal dominant polycystic kidney disease

ConclusionsOur study revealed a novelPKD1 variant using ES as the cause of ADPKD in a Chinese family with multiple affected members. The variant at the exon-intron boundary would induce alternative splicing, which should not be excluded from genetic analysis. Validated on the cDNA level could provide more comprehensive genetic information for disease stratification. And the novel variant expands the spectrum ofPKD1 variants in ADPKD. The recurrent risk could be blocked accordingly for the families' offspring.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research