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Article

Novel compound heterozygous mutation of the KNG1 gene associated with severe HMWK deficiency in a Chinese pedigree.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Jun 2026

Huang Juan, Li Wujiao, Wang Ying, Xiao Weiwei, Liu Wei, Li Bing, Brandao Leonardo, Fu Xiaoying

Abstract excerpt

OBJECTIVE: This study identifies and characterizes the novel compound heterozygous mutations in the KNG1 gene responsible for severe high molecular weight kininogen (HMWK) deficiency in a 3-year-old Chinese boy. METHODS: The proband was identified during preoperative screening due to an isolated, prolonged activated partial thromboplastin time (APTT) without bleeding symptoms. Coagulation profiles, including...

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Identifiers

PMID: 41816881
DOI: 10.1097/MBC.0000000000001412

Genes

KNG1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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