Seven novel mutations in mut methylmalonic aciduria

Human Mutation
C E AdjallaDavid S Rosenblatt

Abstract

Methylmalonic aciduria (MMA) is an autosomal recessive inborn error of metabolism that results from functional defects in methylmalonyl CoA mutase (MCM), a nuclear-encoded, mitochondrial enzyme that uses the vitamin B12 derivative, adenosylcobalamin (AdoCbl) as a cofactor. To date, 23 mutations have been identified at the MUT locus on the short arm of chromosome 6, causing the mut forms of MMA (mut complementation group; mut MMA, McKusick #251000). We now report seven novel mutations. Three were found inmut0 patients: R228Q (c759G-->A) was found as a heterozygous change; G312V (c1011G-->T) and 346delL (c1112delCTT) were both found as homozygous changes. Four mutations were found in mut patients: A191E (c648C-->A) and V633G (c1974T-->G) were found in the same patient; 684insL (c2128insCTC) and L685R (c2130T-->G) were both found as homozygous changes. The recent modelling of the human methylmalonyl CoA mutase allowed for an interpretation of the identified mutations.

References

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Citations

Dec 1, 2010·Expert Reviews in Molecular Medicine·D Sean Froese, Roy A Gravel
Apr 21, 2007·Pediatrics International : Official Journal of the Japan Pediatric Society·Chikako OyamaGoro Takada
Feb 24, 2006·Pediatrics International : Official Journal of the Japan Pediatric Society·Azusa KobayashiHiroaki Takahashi
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Mar 23, 2005·Molecular Genetics and Metabolism·Maria Angeles MartínezBelén Pérez
Apr 3, 2008·Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society·Keli Hansen, Simon Horslen
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Oct 18, 2019·Journal of Inherited Metabolic Disease·Lulu KangYanling Yang
Aug 16, 2017·Indian Journal of Clinical Biochemistry : IJCB·Chandrawati KumariSiddarth Ramji
Feb 4, 2019·Molecular Biology Reports·Fatemeh KeyfiAbdolreza Varasteh

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