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
Publication details
- DOI
- 10.5001/omj.2017.12
- Journal
- Oman Medical Journal
- Publisher
- Oman Medical Specialty Board
- Open access
- Gold open access
Cite this article
APA 7
Al Macki, N., & Al Rashdi, I. (2017). A Novel Deletion Mutation of Exon 2 of the C19orf12 Gene in an Omani Family with Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN). Oman Medical Journal. https://doi.org/10.5001/omj.2017.12
MLA 9
Al Macki, Nabil, and Ismail Al Rashdi. "A Novel Deletion Mutation of Exon 2 of the C19orf12 Gene in an Omani Family with Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN)." Oman Medical Journal, 2017. https://doi.org/10.5001/omj.2017.12.
Chicago (author–date)
Al Macki, Nabil, and Ismail Al Rashdi. 2017. "A Novel Deletion Mutation of Exon 2 of the C19orf12 Gene in an Omani Family with Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN)." Oman Medical Journal. https://doi.org/10.5001/omj.2017.12.
Harvard
Al Macki, N. and Al Rashdi, I. (2017) 'A Novel Deletion Mutation of Exon 2 of the C19orf12 Gene in an Omani Family with Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN)', Oman Medical Journal. doi:10.5001/omj.2017.12.
Vancouver
Al Macki N, Al Rashdi I. A Novel Deletion Mutation of Exon 2 of the C19orf12 Gene in an Omani Family with Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN). Oman Medical Journal. 2017. doi:10.5001/omj.2017.12
IEEE
N. Al Macki, and I. Al Rashdi, "A Novel Deletion Mutation of Exon 2 of the C19orf12 Gene in an Omani Family with Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN)," Oman Medical Journal, 2017, doi: 10.5001/omj.2017.12.