Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene
المؤلف | Moseilhy, Ahmed |
المؤلف | Hassan, Magdy M. |
المؤلف | El Abd, Heba S. A. |
المؤلف | Mohammad, Shaimaa A. |
المؤلف | El Bekay, Rajaa |
المؤلف | Abdel-Motal, Ussama M. |
المؤلف | Ouhtit, Allal |
المؤلف | Zaki, Osama K. |
المؤلف | Zayed, Hatem |
تاريخ الإتاحة | 2017-01-15T05:20:47Z |
تاريخ النشر | 2016-08-17 |
اسم المنشور | Metabolic Brain Disease |
المعرّف | http://dx.doi.org/10.1007/s11011-016-9879-x |
الاقتباس | Moseilhy, A., Hassan, M.M., El Abd, H.S.A. et al. Metab Brain Dis (2017) 32: 35. |
الرقم المعياري الدولي للكتاب | 0885-7490 |
المعرّف | Journal no. 11011 |
الملخص | 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. |
اللغة | en |
الناشر | Springer US |
الموضوع | Glutaric acidemia type I Glutaryl-CoA dehydrogenase MRI MS/MS GC/MS |
النوع | Article |
الصفحات | 35-40 |
رقم العدد | 1 |
رقم المجلد | 32 |
ESSN | 1573-7365 |
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