Associated Papers
DEGS1-Related Hypomyelinating Leukodystrophy: Four Individuals From Same Family and Review of Literature.
Grinberg M et al.
Neurology. Genetics, 2026
A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved.
Beale HC et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40297416 (PubMed )
Supplement: media-1.xlsx › S3_Clinical_findings
The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy.
Hülsmeier AJ et al.
Journal of Lipid Research, 2023
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing.
Yan H et al.
Journal of Human Genetics, 2021
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.
Pant DC et al.
The Journal of Clinical Investigation, 2019
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