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Novel mutation (E113X) of antithrombin III gene (AT3) in a woman with gestational recurrent thrombosis

✍ Scribed by Yamada, Hideto; Hoshi, Nobuhiko; Kato, Emi H.; Ebina, Yasuhiko; Kishida, Tatsuro; Sagawa, Tadashi; Matsuno, Kazuhiko; Fujimoto, Seiichiro

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 8 KB
Volume: 91
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000424)91:5<348::aid-ajmg5>3.0.co;2-9

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✦ Synopsis

A 35-year-old Japanese woman with a low level (42-54%) of blood antithrombin (AT) III, experienced two induced abortions due to deep venous thrombosis at 8 weeks of gestation (GW) and cerebral thrombosis at 10 GW. The present pregnancy was successfully managed with intravenous administration of AT III (6,000-8,000 U/wk). Analysis of polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) for exons 3A and 4 of the AT III gene (AT3) using her DNA revealed extra expansion bands with altered migration. The DNA sequencing demonstrated novel mutations in exon 3A of AT3: a G to T substitution at nucleotide position 5333 in codon GAG for Glu 113, causing a stop codon (E113X), and an A to T substitution at position 5338 in codon AAA for Lys 114, forming Asn (K114N). These novel mutations, especially E113X, in AT3 may be related to recurrent thrombosis in the pregnancy.

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