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

• Main Authors: Lukáš Strych (Author), Monika Černá (Author), Markéta Hejnalová (Author), Tomáš Zavoral (Author), Pavla Komrsková (Author), Jitka Tejcová (Author), Ibrahim Bitar (Author), Eva Sládková (Author), Josef Sýkora (Author), Ivan Šubrt (Author)
• Format: Book
• Published: BMC, 2024-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 variant...