title: Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.
abstract: Homocystinuria due to cystathionine beta-synthase (CBS) deficiency is an inherited disorder of homocysteine transsulfuration, which manifests by neurological, vascular and connective tissue involvement. So far, 130 pathogenic mutations have been recognized in the CBS gene. We examined 10 independent alleles in Polish patients suffering from CBS deficiency, and we detected four already described mutations (c.1224-2A>C, c.684C>A, c.833T>C, and c.442G>A) and two novel mutations (c.429C>G and c.1039+1G>T). The pathogenicity of the novel mutations was demonstrated by expression in E.coli. This is the first published communication on mutations leading to CBS deficiency in Poland.
authors.affiliation: Institute of Inherited Metabolic Diseases, Charles University - First Faculty of Medicine, Prague, Czech Republic.
authors.forename: Marek
authors.initials: M
authors.lastname: Orendáè
authors.forename: Ewa
authors.initials: E
authors.lastname: Pronicka
authors.forename: Jolanta
authors.initials: J
authors.lastname: Kubalska
authors.forename: Miroslav
authors.initials: M
authors.lastname: Janosik
authors.forename: Jitka
authors.initials: J
authors.lastname: Sokolová
authors.forename: Michael
authors.initials: M
authors.lastname: Linnebank
authors.forename: Hans Georg
authors.initials: HG
authors.lastname: Koch
authors.forename: Viktor
authors.initials: V
authors.lastname: Kozich
mesh_terms: D003541:Cystathionine beta-Synthase / Q000172:deficiency / Q000235:genetics*; D004252:DNA Mutational Analysis; D006712:Homocystinuria / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D009154:Mutation; D011044:Poland
chemical_list: D003541:Cystathionine beta-Synthase