Novel mutations found in two genes of Thai patients with isolated methylmalonic acidemia

• Main Authors: Siriporn Keeratichamroen, James R Ketudat Cairns, Phannee Sawangareetrakul, Somporn Liammongkolkul, Voraratt Champattanachai, Chantragan Srisomsap, Mahattana Kamolsilp, Pornswan Wasant, Jisnuson Svasti
• Other Authors: Chulabhorn Research Institute
• Format: Article
• Published: 2018
• Subjects: Biochemistry, Genetics and Molecular Biology
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/24189
• Institution: Mahidol University

Molecular genetic analysis of three patients diagnosed with isolated methylmalonic acidemia (MMA) revealed that one was mut0MMA, with a mutation in the MUT gene encoding the l-methylmalonyl-CoA mutase (MCM), and two were cblB MMA, with mutations in the MMAB gene required for synthesizing the deoxyadenosylcobalamin cofactor of MCM. The mut0patient was homozygous for a novel nonsense mutation in MUT, p.R31X (c.167C → T), and heterozygous for three previously described polymorphisms, p.K212K (c.712A → G), p.H532R (c.1671A → G), and p.V671I (c.2087G → A). The new MMAB mutation, p.E152X (c.454G → T), was found to be homozygous in one cblB patient and heterozygous in the other patient, who also had four intron polymorphisms in this gene. © 2007 Springer Science+Business Media, LLC.