rs863223432

Classical homocystinuria is an autosomal recessive disorder due to a deficiency of cystathionine-b-synthase activity that occurs due to mutations in the gene CBS. The purpose of the study is to determine the characteristics of clinical manifestations and establish mutations in the gene CBS in patients with classical homocystinuria in the Republic of Belarus. The study group included patients with classical homocystinuria and their healthy sibs (3 probands and 2 sibs) from three unrelated families. The diagnosis of classical homocystinuria probandam was established based on quantification of total homocysteine concentration. Search for mutations in a gene CBS carried out using high-throughput sequencing. The presence of identified variants in probands and their sibs was confirmed by Sanger sequencing.

2022 · АА Гусина, АВ Зиновик, ИВ Наумчик… (A. A. Gusina, A.V. Zinovik, AND. V. Naumchik, V. D. Kulak, AND. N. Motyuk, A. S. Boisha, S. O. Myasnikov, A. S. Stalybko, N. B. Gusina)