Alla Semyachkina*, Elena Voskoboeva, Maria Yablonskya and Ekaterina Nikolaeva
The aim of this article is to analyze clinical features and molecular and genetic data of the Russian cohort of homocystinuria patients. We present the results of the 45 year clinical observation of 27 Russian homocystinuria patients. The clinical phenotype is a combination of Marfanoid habitus with skeletal deformities, disturbances of the central nervous and cardiovascular systems and ocular pathology. We made a mutation analysis of the cystathionine beta-synthase deficiency (CBS) gene for thirteen patients from eleven unrelated genealogies. All patients except for the two were compound heterozygotes for the mutations detected. The most frequent mutation in the cohort investigated was splice mutation IVS11-2a->c. We detected one new nonsense mutation, one new missense mutation and three novel small deletions.