Publication: Novel mutations found in two genes of Thai patients with isolated methylmalonic acidemia
Issued Date
2007-06-01
Resource Type
ISSN
00062928
Other identifier(s)
2-s2.0-34250755916
Rights
Mahidol University
Rights Holder(s)
SCOPUS
Bibliographic Citation
Biochemical Genetics. Vol.45, No.5-6 (2007), 421-430
Suggested Citation
Siriporn Keeratichamroen, James R Ketudat Cairns, Phannee Sawangareetrakul, Somporn Liammongkolkul, Voraratt Champattanachai, Chantragan Srisomsap, Mahattana Kamolsilp, Pornswan Wasant, Jisnuson Svasti Novel mutations found in two genes of Thai patients with isolated methylmalonic acidemia. Biochemical Genetics. Vol.45, No.5-6 (2007), 421-430. doi:10.1007/s10528-007-9085-y Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/24189
Research Projects
Organizational Units
Authors
Journal Issue
Thesis
Title
Novel mutations found in two genes of Thai patients with isolated methylmalonic acidemia
Abstract
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.