Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN).

ABSTRACT:

Background

Mitochondrial membrane protein-associated neurodegeneration (MPAN) is caused by pathogenic sequence variants in C19orf12. Autosomal recessive inheritance has been demonstrated. We present evidence of autosomal dominant MPAN and propose a mechanism to explain these cases.

Methods

Two large families with apparently dominant MPAN were investigated; additional singleton cases of MPAN were identified. Gene sequencing and multiplex ligation-dependent probe amplification were used to characterize the causative sequence variants in C19orf12. Post-mortem brain from affected subjects was examined.

Results

In two multi-generation non-consanguineous families, we identified different nonsense sequence variations in C19orf12 that segregate with the MPAN phenotype. Brain

SUBMITTER: Gregory A 

PROVIDER: S-EPMC6625130 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature