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.
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Boers GHJ (1986) Homocystinuria, a risk factor of premature vascular disease. Clin Res Stud 3:5–84
Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156–159
Finkelstein JD, Martin JJ (1984) Methionine metabolism in mammals. Distribution of homocysteine between competing pathways. J Biol Chem 259:9508–9513
Hu FL, Gu Z, Kozich V, Kraus JP, Ramesh V, Shih V (1993) Molecular basis of cystathionine β-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria. Hum Mol Genet 2:1857–1860
Kraus JP (1994) Molecular basis of phenotype expression in homocystinuria. J Inherit Metab Dis 17:383–390
Kraus JP, Le K, Swaroop M, Ohura T, Rosenberg LE, Roper MD, Kozich V (1993) Human cystathionine β-synthase cDNA: sequence, alternative splicing and expression in cultured cells. Hum Mol Genet 2:1633–1638
Mudd SH, Levy HL, Skovby F (1989) Disorders of transsulfuration. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The etabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 693–734
Müncke M, Kraus JP, Ohura T, Francke U (1988) The gene for cystathionine β-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17. Am J Hum Genet 42:550–559
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Kluijtmans, L.A.J., Blom, H.J., Boers, G.H.J. et al. Two novel missense mutations in the cystathionine β-synthase gene in homocystinuric patients. Hum Genet 96, 249–250 (1995). https://doi.org/10.1007/BF00207394
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DOI: https://doi.org/10.1007/BF00207394