Compound heterozygous pathogenic variants in the GALC gene cause infant-onset Krabbe disease.

ABSTRACT:

Background

Krabbe disease, also called globoid cell leukodystrophy, is an autosomal recessive disease caused by a deficiency of lysosomal galactocerebrosidase. Infantile Krabbe occurring before 12 months of age accounts for most cases. Typical clinical features include irritability, seizures, peripheral neuropathy, and progressive neurodegeneration.

Methods

We collected and summarized the clinical and genetic data of an 8-month-old boy who demonstrated Krabbe disease onset at around 6 months. Potential pathogenic variants were screened by whole exome sequencing, and effects of candidate variants on alternative transcript and truncated protein were further validated at the RNA and protein level.

Results

Galactocerebrosidase activity was nearly absent in his blood, and

SUBMITTER: Zhang X 

PROVIDER: S-EPMC8578788 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature