Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.

ABSTRACT:

Objective

We describe the clinical characteristics and genetic etiology of several new cases within the ACO2-related disease spectrum. Mitochondrial aconitase (ACO2) is a nuclear-encoded tricarboxylic acid cycle enzyme. Homozygous pathogenic missense variants in the ACO2 gene were initially associated with infantile degeneration of the cerebrum, cerebellum, and retina, resulting in profound intellectual and developmental disability and early death. Subsequent studies have identified a range of homozygous and compound heterozygous pathogenic missense, nonsense, frameshift, and splice-site ACO2 variants in patients with a spectrum of clinical manifestations and disease severities.

Methods

We describe a cohort of five novel patients with biallelic pathogenic variants in ACO2. W

SUBMITTER: Blackburn PR 

PROVIDER: S-EPMC7318087 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature