Zahedan Journal of Research in Medical Sciences

Published by: Kowsar

A Novel Mutation in the BCKDHB Gene Causes in an Iranian Child Classic Maple Syrup Urine Disease

Esmat Safdarian 1 , Hamid Galehdari 2 , * , Vahab Jafarian 1 , Mohammad Shafee 2 , Gholamreza Shariati 3 , Mohammad Hamid 3 and Alihossein Saberi 3
Authors Information
1 Department of Biology, Faculty of Sciences, University of Zanjan, Zanajn, IR Iran
2 Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, IR Iran
3 Narges Genetics Laboratory, Ahvaz, IR Iran
Article information
  • Zahedan Journal of Research in Medical Sciences: October 2016, 18 (10); e3399
  • Published Online: September 28, 2016
  • Article Type: Case Report
  • Received: July 5, 2015
  • Revised: August 15, 2015
  • Accepted: September 24, 2016
  • DOI: 10.17795/zjrms-3399

To Cite: Safdarian E, Galehdari H, Jafarian V, Shafee M, Shariati G, et al. A Novel Mutation in the BCKDHB Gene Causes in an Iranian Child Classic Maple Syrup Urine Disease, Zahedan J Res Med Sci. 2016 ; 18(10):e3399. doi: 10.17795/zjrms-3399.

Abstract
Copyright © 2016, Zahedan University of Medical Sciences. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
1. Introduction
2. Methods
3. Results
4. Discussion
Acknowledgements
Footnotes
References
  • 1. Chuang JL, Wynn RM, Moss CC, Song JL, Li J, Awad N, et al. Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype. J Biol Chem. 2004; 279(17): 17792-800[DOI][PubMed]
  • 2. Edelmann L, Wasserstein MP, Kornreich R, Sansaricq C, Snyderman SE, Diaz GA. Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population. Am J Hum Genet. 2001; 69(4): 863-8[DOI][PubMed]
  • 3. Nellis MM, Kasinski A, Carlson M, Allen R, Schaefer AM, Schwartz EM, et al. Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression. Mol Genet Metab. 2003; 80(1-2): 189-95[PubMed]
  • 4. Chuang DT, Chuang JL, Wynn RM. Lessons from genetic disorders of branched-chain amino acid metabolism. J Nutr. 2006; 136(1 Suppl): 243S-9S[PubMed]
  • 5. Quintana E, Pineda M, Font A, Vilaseca MA, Tort F, Ribes A, et al. Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain. J Inherit Metab Dis. 2010; 33 Suppl 3-9[DOI][PubMed]
  • 6. Quental S, Gusmao A, Rodriguez-Pombo P, Ugarte M, Vilarinho L, Amorim A, et al. Revisiting MSUD in Portuguese Gypsies: evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene. Ann Hum Genet. 2009; 73: 298-303[DOI][PubMed]
  • 7. Morton DH, Strauss KA, Robinson DL, Puffenberger EG, Kelley RI. Diagnosis and treatment of maple syrup disease: a study of 36 patients. Pediatrics. 2002; 109(6): 999-1008[PubMed]
  • 8. Kalendar R, Lee D, Schulman AH. Java web tools for PCR, in silico PCR, and oligonucleotide assembly and analysis. Genomics. 2011; 98(2): 137-44[DOI][PubMed]
  • 9. Kalendar R, Lee D, Schulman AH. FastPCR software for PCR, in silico PCR, and oligonucleotide assembly and analysis. Methods Mol Biol. 2014; 1116: 271-302[DOI][PubMed]
  • 10. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010; 7(4): 248-9[DOI][PubMed]
  • 11. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009; 4(7): 1073-81[DOI][PubMed]
  • 12. Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010; 7(8): 575-6[DOI][PubMed]
  • 13. Flaschker N, Feyen O, Fend S, Simon E, Schadewaldt P, Wendel U. Description of the mutations in 15 subjects with variant forms of maple syrup urine disease. J Inherit Metab Dis. 2007; 30(6): 903-9[DOI][PubMed]
Creative Commons License Except where otherwise noted, this work is licensed under Creative Commons Attribution Non Commercial 4.0 International License .

Search Relations:

Author(s):

Article(s):

Create Citiation Alert
via Google Reader

Readers' Comments