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A novel frameshift mutation in exon 4 causing a deficiency of high-molecular-weight kininogen in a patient with

Noriyasu Fukushima1, Hidekazu Itamura, Hideo Wada

  • 1Department of Medical Science Technology, School of Health Sciences at Fukuoka, International University of Health and Welfare, Japan.

Internal Medicine (Tokyo, Japan)
|February 5, 2014
PubMed

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.

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