Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus.

ABSTRACT:

Background

X-linked nephrogenic diabetes insipidus (NDI) is a rare genetic renal disease caused by pathogenic variants in the AVPR2 gene. Single nucleotide variants and small insertions/deletions in AVPR2 are reliably detected by routine clinical sequencing. Nevertheless, structural variants involving AVPR2 are challenging to identify accurately by conventional genetic testing. Here, we report a novel deletion of AVPR2 in a Czech family identified for the first time by targeted long-read sequencing (T-LRS).

Methods

A male proband with X-linked NDI underwent clinical sequencing of the AVPR2 gene that failed and thus indicated possible whole-gene deletion. Therefore, PCR mapping and subsequent targeted long-read sequencing (T-LRS) using a Pacific Biosciences sequencer were app

SUBMITTER: Strych L 

PROVIDER: S-EPMC10804598 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature