Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.

ABSTRACT:

Background

Long-read sequencing is increasingly used to uncover structural variants in the human genome, both functionally neutral and deleterious. Structural variants occur more frequently in regions with a high homology or repetitive segments, and one rearrangement may predispose to additional events. Bartter syndrome type 3 (BS 3) is a monogenic tubulopathy caused by deleterious variants in the chloride channel gene CLCNKB, a high proportion of these being large gene deletions. Multiplex ligation-dependent probe amplification, the current diagnostic gold standard for this type of mutation, will indicate a simple homozygous gene deletion in biallelic deletion carriers. However, since the phenotypic spectrum of BS 3 is broad even among biallelic deletion carriers, we undertook a m

SUBMITTER: Tschernoster N 

PROVIDER: S-EPMC10464140 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature