Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.

ABSTRACT:

Objective

To delineate the full phenotypic spectrum of BCS1L-related disease, provide better understanding of the genotype-phenotype correlations and identify reliable prognostic disease markers.

Methods

We performed a retrospective multinational cohort study of previously unpublished patients followed in 15 centres from 10 countries. Patients with confirmed biallelic pathogenic BCS1L variants were considered eligible. Clinical, laboratory, neuroimaging and genetic data were analysed. Patients were stratified into different groups based on the age of disease onset, whether homozygous or compound heterozygous for the c.232A>G (p.Ser78Gly) variant, and those with other pathogenic BCS1L variants.

Results

Thirty-three patients were included. We found that growth failure,

SUBMITTER: Hikmat O 

PROVIDER: S-EPMC8607453 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature