Congenital Factor XI deficiency in an elderly Japanese male accompanied by nonsense mutation p.Trp519* and novel missense mutation p.Ile618Phe

Motoki Sugasaki; Shingen Nakamura; Hiromi Nakagawa; Keisuke Teramoto; Minami Urushihara; Yusuke Inoue; Takayuki Nakao; Masataka Sata; Ken‐ichi Matsuoka

doi:10.2152/jmi.73.281

January 1, 2026The Journal of Medical InvestigationOpen Access

Congenital Factor XI deficiency in an elderly Japanese male accompanied by nonsense mutation p.Trp519* and novel missense mutation p.Ile618Phe

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Key Points

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.

Implication

Case report presents compound heterozygous mutations decreasing factor XI activity in an elderly male, suggesting implications for treatment.

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.

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Cite This Study

Sugasaki et al. (2026) studied this question.

synapsesocial.com/papers/69ec598788ba6daa22dab62d https://doi.org/10.2152/jmi.73.281

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Congenital Factor XI deficiency in an elderly Japanese male accompanied by nonsense mutation p.Trp519* and novel missense mutation p.Ile618Phe

Key Points

Implication

Abstract

Discussion

Cite This Study

Congenital Factor XI deficiency in an elderly Japanese male accompanied by nonsense mutation p.Trp519* and novel missense mutation p.Ile618Phe

Key Points

Implication

Abstract

Discussion

Cite This Study

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