Oman Medical Journal. 2017; 32 (1): 66-68
em Inglês
| IMEMR
| ID: emr-185728
ABSTRACT
Mutations in the C19 or f12 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 C19 or f12 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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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Encéfalo
/
Deleção de Sequência
/
Consanguinidade
/
Proteínas Mitocondriais
Tipo de estudo:
Relato de Casos
Limite:
Criança
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Oman Med. J.
Ano de publicação:
2017
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