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  4. Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria : identification of seven novel mutations
 
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Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria : identification of seven novel mutations

Date Issued
2007-01-01
Author(s)
Lempp, Thomas J
Suormala, Terttu
Siegenthaler, Renate
Baumgartner, E Regula
Fowler, Brian  
Steinmann, Beat
Baumgartner, Matthias R
DOI
10.1016/j.ymgme.2006.10.002
Abstract
Isolated methylmalonic acidurias (MMA-urias) comprise a group of rare autosomal recessively inherited disorders characterised by accumulation of MMA in urine and other body fluids, resulting from deficient activity of the mitochondrial enzyme methylmalonyl-CoA mutase (MCM). Isolated MMA-uria results from either MCM apoenzyme defects (mut(0) and mut(-)) or defects in synthesis of its cofactor 5-deoxyadenosylcobalamin, i.e. cblA, cblB and cblD-variant 2. To date various studies have identified 171 disease-causing mutations in the MCM gene (MUT). We report mutation analysis in 32 probands with mut MMA-uria including 13 probands with a mut(-) defect. Sixty two of 64 possible mutant alleles were identified, seven of which were novel missense alleles. We found three novel mutations (c.427C>T/p.H143Y; c.862T>C/p.S288P; c.1361G>A/p.G454E) among 19 probands with a mut(0) defect and four novel mutations (c.299A>G/p.Y100C; c.1031C>T/p.S344F; c.1097A>G/p.N366S; c.2081G>T/p.R694L) among 13 probands with a mut(-) defect. Our study provides evidence that the p.Y100C, p.R108H, p.N366S, p.V633G, p.R694W, p.R694L and p.M700K mutations are associated with a mut(-) phenotype.
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