Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy.

ABSTRACT:

Background

Biallelic loss-of-function NDUFA12 variants have hitherto been linked to mitochondrial complex I deficiency presenting with heterogeneous clinical and radiological features in nine cases only.

Objectives

To fully characterize, both phenotypically and genotypically, NDUFA12-related mitochondrial disease.

Methods

We collected data from cases identified by screening genetic databases of several laboratories worldwide and systematically reviewed the literature.

Results

Nine unreported NDUFA12 cases from six pedigrees were identified, with presentation ranging from movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. MRI showed basal ganglia abnormalities (n = 6), optic atrophy (n = 2), or

SUBMITTER: Magrinelli F 

PROVIDER: S-EPMC8810437 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature