Biochemical Genetics

, Volume 45, Issue 5–6, pp 421–430 | Cite as

Novel Mutations Found in Two Genes of Thai Patients with Isolated Methylmalonic Acidemia

  • Siriporn Keeratichamroen
  • James R. Ketudat Cairns
  • Phannee Sawangareetrakul
  • Somporn Liammongkolkul
  • Voraratt Champattanachai
  • Chantragan Srisomsap
  • Mahattana Kamolsilp
  • Pornswan Wasant
  • Jisnuson Svasti
Article

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.

Keywords

methylmalonic acidemia methylmalonyl-CoA mutase cblB; mutation 

Notes

Acknowledgments

The authors are grateful to the families of the patients for their assistance in this investigation and to the Chulabhorn Research Institute for financial support.

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Copyright information

© Springer Science+Business Media, LLC 2007

Authors and Affiliations

  • Siriporn Keeratichamroen
    • 1
  • James R. Ketudat Cairns
    • 1
    • 2
  • Phannee Sawangareetrakul
    • 1
  • Somporn Liammongkolkul
    • 3
  • Voraratt Champattanachai
    • 1
  • Chantragan Srisomsap
    • 1
  • Mahattana Kamolsilp
    • 4
  • Pornswan Wasant
    • 3
  • Jisnuson Svasti
    • 1
    • 5
  1. 1.Laboratory of BiochemistryChulabhorn Research InstituteBangkokThailand
  2. 2.School of Biochemistry, Institute of ScienceSuranaree University of TechnologyNakhon RatchasimaThailand
  3. 3.Department of Pediatrics, Faculty of Medicine, Genetics Unit, Siriraj HospitalMahidol UniversityBangkokThailand
  4. 4.Department of Pediatrics, Faculty of Medicine, Genetics UnitPhramongkutklao HospitalBangkokThailand
  5. 5.Department of Biochemistry and Center of Excellence in Protein Structure and Function, Faculty of ScienceMahidol UniversityBangkokThailand

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