Single variant, yet "double trouble": TSC and KBG syndrome because of a large de novo inversion.

ABSTRACT: Despite the advances in high-throughput sequencing, many rare disease patients remain undiagnosed. In particular, the patients with well-defined clinical phenotypes and established clinical diagnosis, yet missing or partial genetic diagnosis, may hold a clue to more complex genetic mechanisms of a disease that could be missed by available clinical tests. Here, we report a patient with a clinical diagnosis of Tuberous sclerosis, combined with unusual secondary features, but negative clinical tests including TSC1 and TSC2 Short-read whole-genome sequencing combined with advanced bioinformatics analyses were successful in uncovering a de novo pericentric 87-Mb inversion with breakpoints in TSC2 and ANKRD11, which explains the TSC clinical diagnosis, and confirms a

SUBMITTER: Rodrigues Alves Barbosa V 

PROVIDER: S-EPMC10803213 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature