Congenital Factor XI deficiency in an elderly Japanese male accompanied by nonsense mutation p.Trp519* and novel missense mutation p.Ile618Phe | Synapse
April 25, 2026The Journal of Medical Investigation0 citationsOpen Access
Congenital Factor XI deficiency in an elderly Japanese male accompanied by nonsense mutation p.Trp519* and novel missense mutation p.Ile618Phe
This case report aims to describe the genetic mutations associated with congenital Factor XI deficiency in a specific patient.
Genetic analysis identified heterozygous mutations p.Trp519* and p.Ile618Phe in the patient.
Measurements of factor XI activity were performed.
The identified mutations resulted in decreased factor XI activity.
Both mutations were classified as compound heterozygous.
Abstract
Because both gene mutations were heterozygous, the patient had compound heterozygous mutations that decreased FXI activity. J. Med. Invest. 73 : 281-285, February, 2026.