[
    {
        "id": "osp-1873",
        "type": "article-journal",
        "title": "A Novel Deletion Mutation of Exon 2 of the C19orf12 Gene in an Omani Family with Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN)",
        "author": [
            {
                "family": "Al Macki",
                "given": "Nabil"
            },
            {
                "family": "Al Rashdi",
                "given": "Ismail"
            }
        ],
        "URL": "https://omanscience.com/en/articles/a-novel-deletion-mutation-of-exon-2-of-the-c19orf12-gene-in-an-omani-family-with-mitochondrial-membrane-protein-associated-neurodegeneration-mpan",
        "language": "en",
        "issued": {
            "date-parts": [
                [
                    2017
                ]
            ]
        },
        "container-title": "Oman Medical Journal",
        "DOI": "10.5001/omj.2017.12",
        "publisher": "Oman Medical Specialty Board",
        "ISSN": "1999-768X",
        "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."
    }
]