Abstract
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.
Highlights
Classical homocystinuria (OMIM 236200) is an autosomal recessive disorder of sulfur-amino acid metabolism that results from the cystathionine beta-synthase (CBS; EC 4.2.1.22) deficiency
Nucleotide sequences of primers were complementary to the sequences of the introns flanking of each coding exons of the CBS gene (according to Electronic-Database Information (NCBI))
Twenty one patients exhibited a skeletal pathology, such as valgus deformity of shins increase in knees and their installation, kyphoscoliosis, chest deformity, clubfoot, several previous fractures and moderate osteoporosis
Summary
Classical homocystinuria (OMIM 236200) is an autosomal recessive disorder of sulfur-amino acid metabolism that results from the cystathionine beta-synthase (CBS; EC 4.2.1.22) deficiency. This defect leads to high accumulation of homocysteine and methionine in blood and urine [1,2]. The clinical picture of homocystinuria was described by many researchers [4,5]. All the authors draw attention to the clinical heterogeneity and progression of the disease, but the majority of them consider that homocystinuria is characterized by a peculiar syndrome of “marfanoid” features, mental retardation, with the formation of focal neurological symptoms, optic lens dislocation, osteoporosis and skeletal deformations, thromboembolism, and cardiovascular disease (myocardial infarction). Due to osteoporosis patients with homocystinuria often have a history of fractures
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