Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis

Millar, D.S.; Wacey, A.I.; Ribando, J.; Melissari, E.; Laursen, B.; Woods, P.; Kakkar, V.V.; Cooper, D.N.

Human Genetics 94(5): 509-512

1994


ISSN/ISBN: 0340-6717
PMID: 7959685
DOI: 10.1007/bf00211016
Accession: 009644825

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Abstract
The polymerase chain reaction and direct sequencing were used to determine the nature of the mutations in the antithrombin III (AT3) gene in seven unrelated patients with familial antithrombin III (ATHI) deficiency and recurrent venous thrombosis. Three novel mutations were found, two associated with a type I deficiency state (Pro80 fwdarw Thr and His120 fwdarw Tyr) manifesting reduced synthesis of ATIII. The other novel lesion (Met251 fwdarw Ile) was associated with a dysfunctional ATIII protein (type II ATIII deficiency) and is predicted to interfere either with a heparin-induced conformational change in the ATIII molecule or with docking to thrombin. A novel polymorphism (Tyr158 fwdarw Cys) was also found to occur in several individuals of Scandinavian origin.

Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis