Deletion Testing of the <i>DEGS1</i> Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18).

ABSTRACT: Hypomyelinating leukodystrophies are a heterogeneous group of disorders characterized by abnormal myelin formation in the central nervous system. Thanks to the increased use of NGS, a growing number of pathogenic single nucleotide variants in DEGS1 have recently been reported to be responsible for hypomyelinating leukodystrophy 18 (HLD18), a rare and severe autosomal recessive form. DEGS1 is a small gene (4 exons and 17 kb) encoding Δ4-dihydroceramide desaturase, which catalyzes the final step in ceramide biosynthesis. Here, we present two patients from unrelated families affected by severe and progressive white matter disease with developmental delay with or without regression and severe intellectual disability. Trio exome sequencing (ES) revealed in both probands two

SUBMITTER: Zanobio M 

PROVIDER: S-EPMC12077970 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature