Istituto di Fisiologia Clinica     
Rubini M., Brusati R., Garattini G., Magnani C., Liviero F., Bianchi F., Tarantino E., Massei A., Pollastri S., Carturan S., Amadori A., Bertagnin E., Cavallaro A., Fabiano A., Franchella A., Calzolari E. Cystathionine beta-synthase c.844ins68 gene variant and non-syndromic cleft lip and palate. In: American Journal of Medical Genetics, vol. 136A pp. 368 - 372. Wiley-Liss, 2005.
Non-syndromic cleft lip with or without cleft palate (CL/P) is a common birth defect with substantial clinical and social impact and whose causes include both genetic and environmental factors. Folate and homocysteine (Hcy) metabolism have been indicated to play a role in the etiology of CL/P, and polymorphisms in folate and Hcy genes may act as susceptibility factors. We investigated a common polymorphism in the cystathionine beta-synthase (CBS) gene (c.844ins68) in 134 Italian CL/P cases and their parents using the transmission disequilibrium test (TDT). Although no overall linkage disequilibrium was observed, considering the parent-of-origin transmission of the CBS 68 bp insertion a significant (P = 0.002) transmission distortion was detected. When children receive the c.844ins68 allele from the mother compared to the father, they show a 18.7-fold increase in risk for CL/P. This evidence suggests CBS as a candidate gene for CL/P and supports a role of maternal-embryo interactions in the etiology of CL/P.
URL: http://www3.interscience.wiley.com/cgi-bin/fulltext/110561287/PDFSTART
Subject cystathionine beta-synthase
methylenetetrahydrofolate reductase
non-syndromic cleft lip and palate

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