Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing.

ABSTRACT:

Background

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked disorder caused by pathogenic variants in the SLC16A2 gene. Although most reported variants are found in protein-coding regions or adjacent junctions, structural variations (SVs) within non-coding regions have not been previously reported.

Methods

We investigated two male siblings with severe neurodevelopmental disorders and spasticity, who had remained undiagnosed for over a decade and were negative from exome sequencing, utilizing long-read HiFi genome sequencing. We conducted a comprehensive analysis including short-tandem repeats (STRs) and SVs to identify the genetic cause in this familial case.

Results

While coding variant and STR analyses yielded negative results, SV analysis revealed a novel hemizy

SUBMITTER: Yoon JG 

PROVIDER: S-EPMC11877835 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature