Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene
التاريخ
2016-08-17المؤلف
Moseilhy, AhmedHassan, 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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البيانات الوصفية
عرض كامل للتسجيلةالملخص
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.
المجموعات
- العلوم الحيوية الطبية [697 items ]