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The mut-type methylmalonic aciduria (MMA, MIM 251000) is caused by a deficiency of mitochondrial methylmalonyl-CoA mutase (MCM, E.C. 5.4.99.2) activity, which results from defects in the MUT gene. To elucidate the mutation spectrum of the MUT gene in Chinese MMA patients, 13 exons of the MUT gene, including untranslated regions, were analyzed by PCR-based sequencing for 42 unrelated Chinese MMA patients. All the 42 patients were found to have at least one MUT mutation. A total of 41 mutations were identified. Of these mutations, 20 were novel ones, including one nonsense mutation (c.103C&gt;T), 12 missense mutations (c.316A&gt;C, c.424A&gt;G, c.494A&gt;G, c.554C&gt;T, c.599T&gt;C, c.919T&gt;C, c.1009T&gt;C, c.1061C&gt;T, c.1141G&gt;A, c.1208G&gt;A, c.1267G&gt;A, and c.1295A&gt;C), one duplication (c.755dupA), three small deletions (c.398_399delGA, c.1046_1058del, and c.1835delG), two mutations that might affect mRNA splicing (c.754-1G&gt;A and c.1084-10A&gt;G), and one major deletion. Among the mutations identified, the c.1280G&gt;A (15.5%), c.729_730insTT (10.7%), c.1106G&gt;A (4.8%), c.1630_1631GG&gt;TA (4.8%), and c.2080C&gt;T (4.8%) accounted for 40% of the diseased alleles. The c.1280G&gt;A and c.729_730insTT mutations were found to be the most frequent mutations in Southern and Northern Chinese, respectively. The results of microsatellite analysis suggest that the spread of c.729_730insTT among the Northern Chinese and of c.1280G&gt;A and c.1630_1631GG&gt;TA among the Southern Chinese may have undergone founder effects. This mutation analysis of the gene responsible for mut-type MMA will help to provide a molecular diagnostic aid for differential diagnosis of MMA and could be applied for carrier detection and prenatal diagnosis among Chinese family at risk of mut-type MMA.

Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients