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Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria

✍ Scribed by Marek Orendáè; Ewa Pronicka; Jolanta Kubalska; Miroslav Janosik; Jitka Sokolová; Michael Linnebank; Hans Georg Koch; Viktor Kožich

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 290 KB
Volume: 23
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.9249

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✦ Synopsis

Homocystinuria due to cystathionine β-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.

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