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

Lempp, Thomas J. and Suormala, Terttu and Siegenthaler, Renate and Baumgartner, E. Regula and Fowler, Brian and Steinmann, Beat and Baumgartner, Matthias R.. (2007) Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria : identification of seven novel mutations. Molecular genetics and metabolism, Vol. 90, no. 3. pp. 284-290.

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Official URL: http://edoc.unibas.ch/dok/A5253375

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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.
Faculties and Departments:03 Faculty of Medicine > Bereich Kinder- und Jugendheilkunde (Klinik) > Ehemalige Einheiten P├Ądiatrie (UKBB) > Labor (Fowler)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Kinder- und Jugendheilkunde (Klinik) > Ehemalige Einheiten P├Ądiatrie (UKBB) > Labor (Fowler)
UniBasel Contributors:Fowler, Brian
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Publisher:Elsevier
ISSN:1096-7192
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:22 Mar 2012 14:24
Deposited On:22 Mar 2012 13:39

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