ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.

ABSTRACT:

Background

Pathogenic variants in the ATAD3A gene lead to a heterogenous clinical picture and severity ranging from recessive neonatal-lethal pontocerebellar hypoplasia through milder dominant Harel-Yoon syndrome up to, again, neonatal-lethal but dominant cardiomyopathy. The genetic diagnostics of ATAD3A-related disorders is also challenging due to three paralogous genes in the ATAD3 locus, making it a difficult target for both sequencing and CNV analyses.

Results

Here we report four individuals from two families with compound heterozygous p.Leu77Val and exon 3-4 deletion in the ATAD3A gene. One of these patients was characterized as having combined OXPHOS deficiency based on decreased complex IV activities, decreased complex IV, I, and V holoenzyme content, as well as decre

SUBMITTER: Skopkova M 

PROVIDER: S-EPMC10127305 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature