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- Title
A Novel Deletion Mutation of Exon 2 of the C19orf12 Gene in an Omani Family with Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN).
- Authors
Macki, Nabil Al; Rashdi, Ismail Al
- Abstract
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.
- Subjects
OMAN; GENETIC disorder diagnosis; NEURODEGENERATION; GENETIC testing; IRON metabolism disorders; BRAIN diseases; BIOCHEMISTRY; CARRIER proteins; CHROMOSOME abnormalities; CONSANGUINITY; GAIT disorders; MAGNETIC resonance imaging; MARRIAGE; PHENOMENOLOGY; GENETIC mutation; NEUROLOGICAL disorders; DIAGNOSIS; ECONOMICS
- Publication
Oman Medical Journal, 2017, Vol 32, Issue 1, p66
- ISSN
1999-768X
- Publication type
Article
- DOI
10.5001/omj.2017.12