Novel Mutations Found in Two Genes of Thai Patients with Isolated Methylmalonic Acidemia |
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| Authors: | Siriporn Keeratichamroen James R Ketudat Cairns Phannee Sawangareetrakul Somporn Liammongkolkul Voraratt Champattanachai Chantragan Srisomsap Mahattana Kamolsilp Pornswan Wasant Jisnuson Svasti |
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| Institution: | (1) Laboratory of Biochemistry, Chulabhorn Research Institute, Vibhavadee Rangsit Road, Bangkok, 10210, Thailand;(2) School of Biochemistry, Institute of Science, Suranaree University of Technology, Nakhon Ratchasima, Thailand;(3) Department of Pediatrics, Faculty of Medicine, Genetics Unit, Siriraj Hospital, Mahidol University, Bangkok, Thailand;(4) Department of Pediatrics, Faculty of Medicine, Genetics Unit, Phramongkutklao Hospital, Bangkok, Thailand;(5) Department of Biochemistry and Center of Excellence in Protein Structure and Function, Faculty of Science, Mahidol University, Bangkok, Thailand |
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| Abstract: | Molecular genetic analysis of three patients diagnosed with isolated methylmalonic acidemia (MMA) revealed that one was mut
0 MMA, 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 mut
0 patient 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. |
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| Keywords: | methylmalonic acidemia methylmalonyl-CoA mutase cblB mutation |
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