Premium
Prenatal Diagnosis in Combined Antithrombin and Factor V Gene Mutation
Author(s) -
Lane David A.,
Auberger Karin,
Ireland Helen,
Roscher Adelbert A.,
Lay Thein Swee
Publication year - 1996
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.1365-2141.1996.02347.x
Subject(s) - antithrombin , prenatal diagnosis , medicine , compound heterozygosity , mutation , endocrinology , fetus , gene mutation , heterozygote advantage , pregnancy , allele , heparin , genetics , biology , gene
We report prenatal diagnosis in a family with combined antithrombin deficiency (type II heparin binding site) and factor V 506 Arg to Gln mutation. Both clinically unaffected parents are heterozygous for the antithrombin mutation, which results in a 99 Leu to Phe substitution, and the father is also heterozygous for the factor V gene defect. There is one daughter, homozygous for the antithrombin and heterozygous for the factor V mutations, who suffered a right‐sided hemiparesis at the age of 4 months due to occlusion of the left middle cerebral artery and a large left sided infarct followed by further thromboembolic events. The family requested prenatal diagnosis and chorionic villi was sampled at 12 weeks gestation. The fetus was shown to be heterozygous for the antithrombin and factor V gene mutations, the same genotype as the unaffected father. No further intervention was considered necessary. To our knowledge this is the first report of prenatal diagnosis in antithrombin deficiency.