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    Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene

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    Date
    2016-08-17
    Author
    Moseilhy, Ahmed
    Hassan, Magdy M.
    El Abd, Heba S. A.
    Mohammad, Shaimaa A.
    El Bekay, Rajaa
    Abdel-Motal, Ussama M.
    Ouhtit, Allal
    Zaki, Osama K.
    Zayed, Hatem
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    Abstract
    Abstract To characterize an Egyptian patient with glutaric acidemia type I (GA I) and to identify the causative mutation( s) that may be responsible for the disease phenotype. MRI was performed on the patient using the 1.5 T magnet, biochemical analysis was carried out using gas chromatography/mass spectrometry on the patient’s dried blood spot, and the patient’s organic acids were measured in dried blood and a urine sample using MS/MS and GC/MS, respectively. Total RNA was isolated from the patient’s peripheral blood, and the synthesized cDNA was bi-directionally sequenced. The patient exhibited clinical features and MRI findings compatible with a diagnosis of GA I. The abnormal elevation of organic acids in the urine supported the presence of glutaryl-CoA dehydrogenase deficiency. Gene sequencing revealed a novel homozygous frameshift mutation, c.644_645insCTCG; p.(Pro217Leufs*14), in exon 8 of the GCDH gene. The present study revealed a novel frameshift mutation responsible for a severe GA I phenotype in an Egyptian patient. This novel mutation will ultimately contribute to a better understanding of the molecular pathology of the disease and shed light on the intricacies of the genotypephenotype correlation of GA I disease.
    DOI/handle
    http://dx.doi.org/10.1007/s11011-016-9879-x
    http://hdl.handle.net/10576/5166
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    • Biomedical Sciences [‎164 ‎ items ]

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