Nanopore sequencing enables combined detection of <i>USP7</i> variants and a known Hao-Fountain syndrome episignature.

ABSTRACT:

Background

Hao-Fountain syndrome (HAFOUS) is a rare neurodevelopmental disorder caused by pathogenic variants in the USP7 gene. This condition is associated with a distinct DNA methylation episignature that aids its diagnosis. While microarray-based methods have traditionally been used to detect these DNA methylation signatures, long-read nanopore sequencing offers the potential for simultaneous genetic and epigenetic analysis.

Methods

We analyzed DNA extracted from the blood of five individuals carrying pathogenic USP7 variants or deletions using Oxford Nanopore direct long-read sequencing. This approach enabled the detection of both genetic variants and native 5 mC methylation profiles. Methylation patterns were analyzed at known HAFOUS-specific episignature

SUBMITTER: van der Laan L 

PROVIDER: S-EPMC12812390 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature