Two cases with mitochondrial membrane protein-associated neurodegeneration: genetic features and long-term clinical follow-up

Abstract

Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurological disease with childhood or adult onset. It is a subtype of clinically and genetically heterogeneous group of disorders, collectively known as neurodegeneration with brain iron accumulation . MPAN is generally associated with biallelic pathogenic variants in C19orf12. Herein, we describe genetic and clinical findings of two MPAN cases from Turkey. In the first case, we have identified the relatively common pathogenic variant of C19orf12 in the homozygous state, which causes late-onset MPAN. The second case was homozygous for an essential splice-site variation.

Keywords: C19orf12; Mitochondrial membrane protein-associated neurodegeneration (MPAN); Neurodegeneration with brain iron accumulation (NBIA); Whole exome sequencing (WES); rare disease.