Human Genetics

, Volume 96, Issue 2, pp 249–250

Two novel missense mutations in the cystathionine β-synthase gene in homocystinuric patients

  • Leo A. J. Kluijtmans
  • Henk J. Blom
  • Godfried H. J. Boers
  • Bernard A. van Oost
  • Frans J. M. Trijbels
  • Lambert P. W. J. van den Heuvel
DNA Variants

DOI: 10.1007/BF00207394

Cite this article as:
Kluijtmans, L.A.J., Blom, H.J., Boers, G.H.J. et al. Hum Genet (1995) 96: 249. doi:10.1007/BF00207394

Abstract

Direct sequencing of the coding region of the cystathionine β-synthase (CBS) gene in two homocystinuric patients revealed the presence of two novel missense mutations. The first mutation, a 1111G → A transition, resulted in the substitution of the evolutionary conserved valine-371 by a methionine residue (V371M) and created a new NlaIII restriction site. The second mutation, a G→A transition at base-pair 494, resulted in an amino acid change from cysteine to tyrosine (C165Y) and abolished a BsoFI restriction site. Both mutations were found in a compound heterozygous state with the previously described 833T → C transition.

Copyright information

© Springer-Verlag 1995

Authors and Affiliations

  • Leo A. J. Kluijtmans
    • 1
  • Henk J. Blom
    • 1
  • Godfried H. J. Boers
    • 2
  • Bernard A. van Oost
    • 3
  • Frans J. M. Trijbels
    • 1
  • Lambert P. W. J. van den Heuvel
    • 1
  1. 1.Department of PaediatricsUniversity Hospital NijmegenNijmegenThe Netherlands
  2. 2.Department of Internal Medicine, Division of EndocrinologyUniversity Hospital NijmegenNijmegenThe Netherlands
  3. 3.Department of Human GeneticsUniversity Hospital NijmegenNijmegenThe Netherlands

Personalised recommendations