Are common mutations of cystathionine β-synthase involved in the aetiology of neural tube defects?
Article first published online: 28 JUN 2008
Volume 51, Issue 1, pages 39–42, January 1997
How to Cite
Ramsbottom, D., Scott, J.M., Molloy, A., Weir, D. G., Kirke, P. N., Mills, J. L., Gallagher, P. M. and Whitehead, A. S. (1997), Are common mutations of cystathionine β-synthase involved in the aetiology of neural tube defects?. Clinical Genetics, 51: 39–42. doi: 10.1111/j.1399-0004.1997.tb02412.x
- Issue published online: 28 JUN 2008
- Article first published online: 28 JUN 2008
- Received in revised version 16 September, accepted for publication 20 September 1996
- cystathionine β;
- 5,10 methylenetetrahydrofolate reductase;
- neural tube defects
Mildly elevated maternal plasma homocysteine (Hcy) levels (hyperhomocysteinemia) have recently been observed in some neural tube defect (NTD) pregnancies. Plasma levels of Hcy are governed by both genetic and nutritional factors and the aetiology of NTDs is also known to have both genetic and nutritional components. We therefore examined the frequency of relatively common mutations in the enzyme cystathionine β-synthase (CBS), which is one of the main enzymes that controls Hcy levels, in the NTD population. Neither the severely dysfunctional G307S CBS allele nor the recently reported 68 bp insertion/I278T CBS allele was observed at increased frequency in the cases relative to controls. We therefore conclude that loss of function CBS alleles do not account for a significant proportion of NTDs in Ireland.