Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.
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.
Orendáè
Marek
M
Institute of Inherited Metabolic Diseases, Charles University - First Faculty of Medicine, Prague, Czech Republic.
Pronicka
Ewa
E
Kubalska
Jolanta
J
Janosik
Miroslav
M
Sokolová
Jitka
J
Linnebank
Michael
M
Koch
Hans Georg
HG
Kozich
Viktor
V
D003541:Cystathionine beta-Synthase / Q000172:deficiency / Q000235:genetics*; D004252:DNA Mutational Analysis; D006712:Homocystinuria / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D009154:Mutation; D011044:Poland
D003541:Cystathionine beta-Synthase