A Novel Deletion Mutation of Exon 2 of the C19orf12 Gene in an Omani Family with Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN)

Abstract

Mutations in the C19orf12 gene are known to cause mitochondrial membrane protein-associated 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-year-old 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.

Keywords: C19orf12 protein, human; Genetics; Neurodegeneration with brain iron accumulation (NBIA).

Figure 1

The pedigree of the family showing the affected individuals.

Figure 2

(a) Axial T2-weighted magnetic resonance image of the brain. (b) Axial fluid-attenuated inversion recovery (FLAIR) image showing hyperintensity in the anterior medial aspect of globus pallidus surrounded by hypointensities ("eye of tiger" sign). (c) Axial T2-weighted image showing hypointensity secondary to iron deposition involving bilateral substantia nigra and red nuclei.