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.
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| http://dx.doi.org/10.5001/omj.2017.12 | DOI Listing |
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C19orf12 gene variants causing mitochondrial membrane protein-associated neurodegeneration (MPAN).
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- Mutations in several genes, like PANK2 and PLA2G6, are linked to different subtypes of the inherited disease Neurodegeneration with Brain Iron Accumulation (NBIA), with four main subtypes accounting for the majority of cases.
- Recent findings suggest additional mutations affecting iron and lipid metabolism may also contribute to the disease's development.
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