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Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency.

Publication ,  Journal Article
Johnson, JL; Coyne, KE; Rajagopalan, KV; Van Hove, JL; Mackay, M; Pitt, J; Boneh, A
Published in: Am J Med Genet
November 22, 2001

Molybdenum cofactor deficiency is a rare inborn error of metabolism with generally severe symptoms, most often including neonatal seizures and severe developmental delay. We describe a patient with an unusually mild form of the disease. Two mutations in MOCS2A (molybdenum cofactor synthesis enzyme 2A) were identified: a single base change, 16C > T, that predicts a Q6X substitution on one allele and a 19G > T transversion that predicts a valine to phenylalanine substitution, V7F, on the second. It is postulated that the milder clinical symptoms result from a low level of residual molybdopterin synthase activity derived from the 19G > T allele.

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Published In

Am J Med Genet

DOI

ISSN

0148-7299

Publication Date

November 22, 2001

Volume

104

Issue

2

Start / End Page

169 / 173

Location

United States

Related Subject Headings

  • Sulfurtransferases
  • Pteridines
  • Phenylalanine
  • Mutation
  • Molybdenum Cofactors
  • Molecular Sequence Data
  • Models, Chemical
  • Metalloproteins
  • Magnetic Resonance Imaging
  • Introns
 

Citation

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Johnson, J. L., Coyne, K. E., Rajagopalan, K. V., Van Hove, J. L., Mackay, M., Pitt, J., & Boneh, A. (2001). Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency. Am J Med Genet, 104(2), 169–173. https://doi.org/10.1002/1096-8628(20011122)104:2<169::aid-ajmg1603>3.0.co;2-8
Johnson, J. L., K. E. Coyne, K. V. Rajagopalan, J. L. Van Hove, M. Mackay, J. Pitt, and A. Boneh. “Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency.Am J Med Genet 104, no. 2 (November 22, 2001): 169–73. https://doi.org/10.1002/1096-8628(20011122)104:2<169::aid-ajmg1603>3.0.co;2-8.
Johnson JL, Coyne KE, Rajagopalan KV, Van Hove JL, Mackay M, Pitt J, et al. Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency. Am J Med Genet. 2001 Nov 22;104(2):169–73.
Johnson, J. L., et al. “Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency.Am J Med Genet, vol. 104, no. 2, Nov. 2001, pp. 169–73. Pubmed, doi:10.1002/1096-8628(20011122)104:2<169::aid-ajmg1603>3.0.co;2-8.
Johnson JL, Coyne KE, Rajagopalan KV, Van Hove JL, Mackay M, Pitt J, Boneh A. Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency. Am J Med Genet. 2001 Nov 22;104(2):169–173.

Published In

Am J Med Genet

DOI

ISSN

0148-7299

Publication Date

November 22, 2001

Volume

104

Issue

2

Start / End Page

169 / 173

Location

United States

Related Subject Headings

  • Sulfurtransferases
  • Pteridines
  • Phenylalanine
  • Mutation
  • Molybdenum Cofactors
  • Molecular Sequence Data
  • Models, Chemical
  • Metalloproteins
  • Magnetic Resonance Imaging
  • Introns