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1.
Oman Medical Journal. 2017; 32 (1): 66-68
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-185728

RESUMO

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


Assuntos
Criança , Feminino , Humanos , Encéfalo/patologia , Proteínas Mitocondriais/genética , Consanguinidade , Deleção de Sequência
2.
Oman Medical Journal. 2011; 26 (5): 301-302
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-127876
3.
Oman Medical Journal. 2011; 26 (5): 356-358
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-127887

RESUMO

This report describes a 6 year old girl with late onset central hypoventilation syndrome due to a heterozygous polyalanine repeat expansion mutation in the PHOX2B gene. This report aims to increase the awareness of this condition among physicians to allow earlier clinical and genetic diagnosis and management of cases of unexplained hypoventilation

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