Molecular genetic study of glutaric aciduria, type I: Identification of a novel mutation

Shadmehri, Azam Ahmadi and Fattahi, Najmeh and Pourreza, Mohammad Reza and Koohiyan, Mahboobeh and Zarifi, Shahnaz and Darbouy, Mojtaba and Sharifi, Reza and Tavakkoly Bazzaz, Javad and Tabatabaiefar, Mohammad Amin (2018) Molecular genetic study of glutaric aciduria, type I: Identification of a novel mutation. J Cell Biochem.

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Glutaric acidemia type I (GA-1) is an inborn error of metabolism due to deficiency of glutaryl-CoA dehydrogenase (GCDH), which catalyzes the conversion of glutaryl-CoA to crotonyl-CoA. GA-1 occurs in about 1 in 100 000 infants worldwide. The GCDH gene is on human chromosome 19p13.2, spans about 7 kb and comprises 11 exons and 10 introns. Tandem mass spectrometry (MS/MS) was used for clinical diagnosis in a proband from Iran with GA-1. Sanger sequencing was performed using primers specific for coding exons and exon-intron flanking regions of the GCDH gene in the proband. Cosegregation analysis and in silico assessment were performed to confirm the pathogenicity of the candidate variant. A novel homozygous missense variant c.1147C > A (p.Arg383Ser) in exon 11 of GCDH was identified. Examination of variant through in silico software tools determines its deleterious effect on protein in terms of function and stability. The variant cosegregates with the disease in family. In this study, the clinical and molecular aspects of GA-1 were investigated, which showed one novel mutation in the GCDH gene in an Iranian patient. The variant is categorized as pathogenic according to the the guideline of the American College of Medical Genetics and Genomics (ACMG) for variant interpretation. This mutation c.1147C > A (p.Arg383Ser) may also be prevalent among Iranian populations.

Item Type: Article
Uncontrolled Keywords: Iran, glutaric acidemia type I, glutaryl-CoA dehydrogenase (GCDH), in silico, pathogenic variant
Subjects: QU Biochemistry
QZ pathology-Neoplasms
Divisions: Faculty of Medicine > Basic Sciences Academic Groups > Department of Biochemistry and Genetics
Depositing User: Unnamed user with email
Date Deposited: 18 Sep 2018 05:17
Last Modified: 23 Apr 2019 06:20

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