# A study on the congenital hypodysfibrinogenemia family and its pathogenic mechanism

## TL;DR

A study identifies genetic mutations in a family with congenital hypodysfibrinogenemia and suggests their role in causing the condition.

## Contribution

The study identifies two novel FGG gene mutations associated with hereditary hypodysfibrinogenemia in a family.

## Key findings

- The patient and her father share two FGG gene mutations (c.615A>C and c.1121A>C).
- Bioinformatics analysis suggests these mutations are likely pathogenic.
- The mother's coagulation tests were normal, indicating a genetic inheritance pattern.

## Abstract

先证者为32岁女性，因妊娠9月余、胎动减少和下腹部不适就诊。先证者及其父亲活化部分凝血活酶时间（APTT）、凝血酶原时间（PT）正常，纤维蛋白原活性和抗原水平降低，凝血酶时间（TT）延长，其母亲凝血指标检测结果均正常。超声检查示“左小腿肌间静脉血栓”。提取先证者及其父母外周血DNA，Sanger测序法检测FGA、FGB和FGG基因碱基序列，先证者及父亲均检出FGG基因6号外显子c.615A>C（p.γLeu205Phe）和8号外显子c.1121A>C（p.γTyr374Ser）杂合错义突变，生物信息学分析提示这两种基因突变可能是该遗传性低异常纤维蛋白原血症家系的致病机制。