Mutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants

Meta Gene
Dina A GhorabaOsama K Zaki

Abstract

Methylmalonic aciduria (MMA) is an autosomal recessive disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. It is an inborn error of organic acid metabolism which commonly results from a defect in the gene encoding the methylmalonyl-CoA mutase (MCM) apoenzyme. Here we report the results of mutation study of exon 2 of the methylmalonyl CoA mutase (MUT) gene, coding MCM residues from 1 to 128, in ten unrelated Egyptian families affected with methylmalonic aciduria. Patients were presented with a wide-anion gap metabolic acidosis. The diagnosis has established by the measurement of C3 (propionylcarnitine) and C3:C2 (propionylcarnitine/acetylcarnitine) in blood by using liquid chromatography-tandem mass spectrometry (LC/MS-MS) and was confirmed by the detection of an abnormally elevated level of methylmalonic acid in urine by using gas chromatography-mass spectrometry (GC/MS) and isocratic cation exchange high-performance liquid-chromatography (HPLC). Direct sequencing of gDNA of the MUT gene exon 2 has revealed a total of 26 allelic variants: ten of which were intronic, eight were located upstream to the exon 2 coding region, four were novel modifications predicted to affect the splicing region, three were novel...Continue Reading

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Citations

Aug 16, 2017·Indian Journal of Clinical Biochemistry : IJCB·Chandrawati KumariSiddarth Ramji
Sep 21, 2021·Critical Reviews in Food Science and Nutrition·Elżbieta SupruniukAdrian Chabowski

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Datasets Mentioned

BETA
M65131.1

Methods Mentioned

BETA
PCR
electrophoresis

Software Mentioned

Phrap / Consed System
Sequin
Phred
Modeller
Math Lynx®

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