Premium
Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria
Author(s) -
Orendáè Marek,
Pronicka Ewa,
Kubalska Jolanta,
Janosik Miroslav,
Sokolová Jitka,
Linnebank Michael,
Koch Hans Georg,
Kožich Viktor
Publication year - 2004
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9249
Subject(s) - homocystinuria , cystathionine beta synthase , biology , genetics , gene , mutation , transsulfuration , allele , homocysteine , methionine , amino acid , biochemistry
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. © 2004 Wiley‐Liss, Inc.