A novel deletion mutation of exon 2 of the C19orf12 gene in an Omani family with mitochondrial membrane protein-associated Neurodegeneration (MPAN)‎

Abstract EN

Mutations in the C19orf12 gene are known to cause mitochondrial membrane proteinassociated neurodegeneration (MPAN), which is a neurodegeneration with brain iron accumulation (NBIA) type 4 disorder.

To the best of our knowledge, this is the first report of a genetically confirmed case of MPAN from Oman.

A novel homozygous deletion of exon 2 of the C19orf12 gene was confirmed on the proband, a seven-yearold girl, who presented with gait instability.

Brain magnetic resonance imaging showed iron deposition on the basal ganglia.

This report highlights the importance of genetic testing of such a clinically and genetically heterogeneous condition among a population with a high consanguinity rate.

To overcome the diagnostic difficulty, implementation of a cost-effective approach to perform cascade screening of carriers at risk is needed as well as programs to address risky consanguineous marriages.