Associated Papers
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
Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.
Kaur N et al.
American Journal of Medical Genetics. Part A, 2025
Loss of function and reduced levels of sphingolipid desaturase DEGS1 variants are both relevant in disease mechanism.
Dei Cas M et al.
Journal of Lipid Research, 2024
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
DEGS1 -related leukodystrophy: a clinical report and review of literature.
Wong MST et al.
Clinical Dysmorphology, 2023
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.
Pant DC et al.
The Journal of Clinical Investigation, 2019
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