Title |
Novel Mutations Found in Two Genes of Thai Patients with Isolated Methylmalonic Acidemia
|
---|---|
Published in |
Biochemical Genetics, April 2007
|
DOI | 10.1007/s10528-007-9085-y |
Pubmed ID | |
Authors |
Siriporn Keeratichamroen, James R. Ketudat Cairns, Phannee Sawangareetrakul, Somporn Liammongkolkul, Voraratt Champattanachai, Chantragan Srisomsap, Mahattana Kamolsilp, Pornswan Wasant, Jisnuson Svasti |
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. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 13 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 2 | 15% |
Student > Ph. D. Student | 2 | 15% |
Lecturer | 1 | 8% |
Professor | 1 | 8% |
Student > Master | 1 | 8% |
Other | 1 | 8% |
Unknown | 5 | 38% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 3 | 23% |
Agricultural and Biological Sciences | 3 | 23% |
Energy | 1 | 8% |
Medicine and Dentistry | 1 | 8% |
Unknown | 5 | 38% |