"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant.

ABSTRACT: Krabbe disease (KD) is a rare lysosomal storage disorder caused by biallelic pathogenic variants in GALC. Most patients manifest the severe classic early-infantile form, while a small percentage of cases have later-onset types. We present two siblings with atypical clinical and neuroimaging phenotypes, compared to the classification of KD, who were found to carry biallelic loss-of-function GALC variants, including a recurrent 30 kb deletion and a previously unreported deep intronic variant that was identified by mRNA sequencing. This family represents a unique description in the KD literature and contributes to expanding the clinical and molecular spectra of this rare disorder.

SUBMITTER: Nicita F 

PROVIDER: S-EPMC9349273 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature