Two case reports of inherited antithrombin deficiency: a novel frameshift mutation and a large deletion including all seven exons detected using two methods.
An inherited antithrombin deficiency is an autosomal dominant thrombotic disorder. We identified two pedigrees of inherited type I antithrombin deficiency and two responsible mutations in each. A novel 21-22delAA appeared to have caused a frameshift with a premature termination at amino acid +63 in one patient and a large deletion including all seven exons was identified by multiplex ligation-dependent probe amplification in the other. Some asymptomatic relatives of the second patient had the same mutation. The present findings support the value of using more than one method of gene analysis and of studying the families of probands with inherited thrombotic disorders.
Department of Clinical Laboratory Science, Kanazawa University Graduate School, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa, 920-0942, Japan.
Akiko
A
Sekiya
Department of Clinical Laboratory Science, Kanazawa University Graduate School, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa, 920-0942, Japan. eriko@med3.m.kanazawa-u.ac.jp.|Department of Hematology, Kanazawa University Hospital, Kanazawa, Japan. eriko@med3.m.kanazawa-u.ac.jp.
Eriko
E
Morishita
Department of Clinical Laboratory Science, Kanazawa University Graduate School, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa, 920-0942, Japan.
Megumi
M
Karato
Department of Clinical Laboratory Science, Kanazawa University Graduate School, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa, 920-0942, Japan.
Keiko
K
Maruyama
Department of Clinical Laboratory Science, Kanazawa University Graduate School, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa, 920-0942, Japan.
Itsumi
I
Shimogawara
Department of Clinical Laboratory, Kanazawa University Hospital, Kanazawa, Japan.
Mika
M
Omote
Department of Cerebrovascular Disease and Clinical Research Institute, National Hospital Organization, Kyushu Medical Center, Fukuoka, Japan.
Yoshiyuki
Y
Wakugawa
Department of Neurology, Ishikawa Prefectural Central Hospital, Kanazawa, Japan.
Moeko
M
Shinohara
Department of Hematology, Kanazawa University Hospital, Kanazawa, Japan.
Tomoe
T
Hayashi
Department of Hematology, Kanazawa University Hospital, Kanazawa, Japan.
Yasuko
Y
Kadohira
Department of Hematology, Kanazawa University Hospital, Kanazawa, Japan.
Hidesaku
H
Asakura
Department of Hematology, Kanazawa University Hospital, Kanazawa, Japan.
Shinji
S
Nakao
Department of Clinical Laboratory Science, Kanazawa University Graduate School, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa, 920-0942, Japan.|Department of Hematology, Kanazawa University Hospital, Kanazawa, Japan.
Shigeki
S
Ohtake
D000328:Adult; D000990:Antithrombin III / Q000235:genetics*; D020152:Antithrombin III Deficiency / Q000175:diagnosis / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree
C542513:SERPINC1 protein, human; D000990:Antithrombin III
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