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Molecular bases of antithrombin deficiency in French families: identification of seven novel mutations in the antithrombin gene
Author(s) -
Picard Véronique,
Bura Alessandra,
Emmerich Joseph,
AlhencGelas Martine,
Biron Christine,
HoubouyanReveillard Lucie L.,
Molho Pascale,
LabatideAlanore Agnès,
Sié Pierre,
Toulon Pierre,
Verdy Elisabeth,
Aiach Martine
Publication year - 2000
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2000.02245.x
Subject(s) - exon , frameshift mutation , antithrombin , missense mutation , antithrombin iii deficiency , genetics , mutation , biology , gene , biochemistry , heparin
We have investigated the molecular bases of familial antithrombin deficiency in eight French families. Eight mutations in the antithrombin coding exons were identified, seven of which were novel mutations. In all cases, individuals were heterozygous for the mutation. We found two small frameshift deletions in exon 3a, leading to type I deficiency. Five missense mutations in exons 3b or 5 also caused type I deficiency and their potential consequences on the antithrombin three‐dimensional structure were analysed. The last mutation in exon 4 was associated with a type II ‘reactive site’ deficiency: a dysfunctional antithrombin that is affected in its interaction with thrombin was present in circulation.