Article

A novel splice site variant in<i>DEGS1</i>leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved

2025-04-11

Abstract excerpt

<h4>Purpose</h4> Pathogenic DEGS1 variants have been reported in individuals with autosomal recessive hypomyelinating leukodystrophy 18 (HLD18; MIM# 618404). We sought to resolve a 5′ +4/+5 splice site variant of uncertain significance found in three individuals with HLD features. <h4>Methods</h4> We used next-generation DNA and transcriptome sequencing, cell-based splicing assays, and tandem mass spectrometry to...

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Literature Corpus work: b8bf2891-990c-579a-ad47-07cf92cb35a0
DOI: 10.1101/2025.04.04.25325118

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A novel splice site variant in<i>DEGS1</i>leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolvedDOI 10.1101/2025.04.04.25325118Read

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