CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.
Soraia PoloniFernanda Sperb-LudwigTaciane BorsattoGiovana Weber HossMaria Juliana R DoriquiEmília K EmbiruçuNey Boa-SorteCharles MarquesChong A KimCarolina Fischinger Moura de SouzaHelio RochaMarcia RibeiroCarlos E SteinerCarolina A MorenoPricila BernardiEugenia ValadaresOsvaldo ArtigalasGerson CarvalhoHector Y C WanderleyJohanna KugeleMelanie WalterLorena Gallego-VillarHenk J BlomIda Vanessa Döederlein SchwartzPublished in: Molecular genetics & genomic medicine (2018)
Most patients studied were pyridoxine nonresponsive and presented early manifestations, suggesting severe phenotypes. Many private mutations were observed, but the four most prevalent mutations together accounted for over 50% of mutated alleles. A good genotype-phenotype relationship was observed within families and for the four most common mutations.