Ann Lab Med.  2019 Mar;39(2):229-231. 10.3343/alm.2019.39.2.229.

The First Case of Congenital Prekallikrein Deficiency in Korea With a Novel Pathogenic Variant (c.1198G>T)

• Ryu S
• Gu JY
• Hong KT
• Han DH
• Kim HK

• KMID: 2425983
• DOI: http://doi.org/10.3343/alm.2019.39.2.229

Abstract

No abstract available.

MeSH Terms

Korea*
Prekallikrein*
Prekallikrein

Figure

• 

  Fig. 1 Results from prekallikrein assays. (A) The patient's and normal plasma were pre-incubated with an activated partial thromboplastin time (aPTT) reagent containing silica activator (SynthASil, Instrumentation Laboratory, Miami, USA) for various times, and clotting times were measured after addition of calcium chloride. Patient plasma pre-incubated with the aPTT reagent showed significant shortening of aPTT. (B) Direct sequencing of KLKB1 showed a c.1198G>T (between red lines) nonsense mutation in exon 11, resulting in premature termination at the 400th amino acid (p.Gly400Ter). (C) Direct sequencing of KLKB1 also showed a c.1259G>A (between red lines) missense mutation in exon 11, leading to the conversion of glycine to glutamine at the 420th amino acid (p.Gly420Glu).

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