The journal of medical investigation : JMI · 2025
Congenital hypofibrinogenemia with a novel mutation BβCys76Phe.
СтатьяКлинический случайНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Sugasaki Motoki, Nakamura Shingen, Arai Shinpei, Teramoto Keisuke, Urushihara Minami, Inoue Yusuke, Nakao Takayuki, Nishioka Yasuhiko, Sata Masataka
Аннотация
OBJECTIVE: Identified genetic mutation in the patient with unexplained decreased fibrinogen activity.
METHODS: We conducted a detailed examination of the patient's fibrinogen activity level, antigen level, and genomic sequence.
RESULTS: The patient's fibrinogen activity level was 80 mg / dL and the antigen level was 131 mg / dL. Upon sequencing of the fibrinogen gene, a novel heterozygous c.Bβ227G > T mutation was detected in Bβ-chain, which results in the cysteine residue at position 76 in exon 3 being converted to a phenylalanine residue.
CONCLUSIONS: This mutation reduces fibrinogen activity and antigen levels, but the pathophysiology of this mutation remains unclear. J. Med. Invest. 72 : 182-184, February, 2025.
METHODS: We conducted a detailed examination of the patient's fibrinogen activity level, antigen level, and genomic sequence.
RESULTS: The patient's fibrinogen activity level was 80 mg / dL and the antigen level was 131 mg / dL. Upon sequencing of the fibrinogen gene, a novel heterozygous c.Bβ227G > T mutation was detected in Bβ-chain, which results in the cysteine residue at position 76 in exon 3 being converted to a phenylalanine residue.
CONCLUSIONS: This mutation reduces fibrinogen activity and antigen levels, but the pathophysiology of this mutation remains unclear. J. Med. Invest. 72 : 182-184, February, 2025.