Krabbe Disease Associated With Mitochondrial Dysfunction in a Chinese Family.

ABSTRACT: Background: Krabbe disease is caused by biallelic mutations of GALC gene. NDUFAF1 gene mutations are related to mitochondrial encephalopathy. To date, there has been no report on the co-pathogenesis of these two gene mutations. There were three children in a family who presented with global developmental retardation. MRI showed lesions in the white matter and dentate nucleus of the cerebellum. Methods: Clinical data of the proband and her family members were gathered in a retrospective manner. Karyotype, FISH, whole exome sequencing was performed using genomic DNAs extracted from peripheral blood samples. Enzyme activities of galactosylceramidase (GALC) and mitochondria were determined to verify gene functions. Results: This study reported a pedigree of l

SUBMITTER: Wu L 

PROVIDER: S-EPMC8717148 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature