A Novel Frameshift Mutation in Exon 4 Causing a Deficiency of High-molecular-weight Kininogen in a Patient with Splenic Infarction

Noriyasu Fukushima; Hidekazu Itamura; Hideo Wada; Makoto Ikejiri; Yuko Igarashi; Hiroya Masaki; Masayuki Sano; Yutaka Komiyama; Tatsuo Ichinohe; Shinya Kimura

doi:10.2169/internalmedicine.53.0737

CASE REPORTS

A Novel Frameshift Mutation in Exon 4 Causing a Deficiency of High-molecular-weight Kininogen in a Patient with Splenic Infarction

Noriyasu Fukushima, Hidekazu Itamura, Hideo Wada, Makoto Ikejiri, Yuko Igarashi, Hiroya Masaki, Masayuki Sano, Yutaka Komiyama, Tatsuo Ichinohe, Shinya Kimura

Author information

Noriyasu Fukushima
Department of Medical Science Technology, School of Health Sciences at Fukuoka, International University of Health and Welfare, Japan
Division of Hematology, Respiratory Medicine and Oncology, Department of Internal Medicine, Saga University, Japan
Hidekazu Itamura
Division of Hematology, Respiratory Medicine and Oncology, Department of Internal Medicine, Saga University, Japan
Hideo Wada
Department of Molecular and Laboratory Medicine, Mie University Graduate School, Japan
Makoto Ikejiri
Department of Molecular and Laboratory Medicine, Mie University Graduate School, Japan
Yuko Igarashi
Department of Clinical Sciences and Laboratory Medicine, Kansai Medical University, Japan
Hiroya Masaki
Department of Clinical Sciences and Laboratory Medicine, Kansai Medical University, Japan
Masayuki Sano
Division of Hematology, Respiratory Medicine and Oncology, Department of Internal Medicine, Saga University, Japan
Department of Internal Medicine, Fujiyamato Onsen Hospital, Japan
Yutaka Komiyama
Department of Clinical Sciences and Laboratory Medicine, Kansai Medical University, Japan
Tatsuo Ichinohe
Division of Hematology, Respiratory Medicine and Oncology, Department of Internal Medicine, Saga University, Japan
Department of Hematology and Oncology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Japan
Shinya Kimura
Division of Hematology, Respiratory Medicine and Oncology, Department of Internal Medicine, Saga University, Japan

Keywords: high-molecular-weight kininogen deficiency, splenic infarction, gene mutation

JOURNAL OPEN ACCESS

2014 Volume 53 Issue 3 Pages 253-257

DOI https://doi.org/10.2169/internalmedicine.53.0737

Details

Abstract

High-molecular-weight kininogen (HMWK) deficiency is a very rare hereditary disorder. We herein report a case of HMWK deficiency with splenic infarction. The HMWK activity of the proband was markedly decreased (0.9%). Direct sequencing of his HMWK gene showed a homozygous "TC" insertion at c523-524 in exon 4. This insertion led to an amino acid substitution, Ser175Ser, resulting in a frameshift mutation and a premature stop codon in amino acid 183. Furthermore, the HMWK activity was also reduced in the patient's three children, who exhibited the heterozygous "TC" insertion at c523-524 in exon 4. This is the first report of this gene alteration in a patient with HMWK deficiency.

Corresponding author

Register with J-STAGE for free!