A novel frameshift mutation in exon 4 causing a deficiency of high-molecular-weight kininogen in a patient with splenic infarction.
Intern Med
; 53(3): 253-7, 2014.
Article
in En
| MEDLINE
| ID: mdl-24492696
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Splenic Infarction
/
Blood Coagulation Disorders
/
Exons
/
Frameshift Mutation
/
Kininogen, High-Molecular-Weight
Limits:
Aged
/
Humans
/
Male
Language:
En
Journal:
Intern Med
Journal subject:
MEDICINA INTERNA
Year:
2014
Document type:
Article
Affiliation country:
Japan