Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria
Language English Country United States Media print
Document type Journal Article, Research Support, Non-U.S. Gov't
PubMed
15146473
DOI
10.1002/humu.9249
Knihovny.cz E-resources
- MeSH
- Cystathionine beta-Synthase deficiency genetics MeSH
- Homocystinuria enzymology genetics MeSH
- Humans MeSH
- Mutation * MeSH
- DNA Mutational Analysis MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Geographicals
- Poland MeSH
- Names of Substances
- Cystathionine beta-Synthase MeSH
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.
References provided by Crossref.org
Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity
OMIM
236200
