携带有先证者及其母亲相同复合杂合性 Thr384Met 和 Arg413Gln 的独特先天性因子 VII 缺陷。
Peculiar Congenital Factor VII Defect with the Proposita and Her Mother Showing the Same Compound Heterozygosity for Thr384Met and Arg413Gln.
机构信息
Department of Medicine, University of Padua Medical School, Padua, Italy,
Hematologia Clinica, Universidad Fasta, Mar del Plata, Argentina.
出版信息
Acta Haematol. 2021;144(1):100-104. doi: 10.1159/000507071. Epub 2020 May 12.
OBJECTIVE
To investigate a family with factor VII (FVII) deficiency from Argentina.
PATIENTS AND METHODS
The proposita is a 14-year-old girl who presented with a mild to moderate bleeding tendency. Menorrhagia is controlled with periodical administration of small doses of recombinant FVII concentrate. The mother of the proposita has a similar bleeding tendency.
RESULTS
FVII activity in both patients was 20% of normal; FVII antigen was 35% of normal. Molecular biology investigation revealed that the proposita was compound heterozygote between Thr384Met and Arg413Gln. The mother had the same mutations. This was due to the fact that the father of the proposita and her maternal grandfather both carried, in spite of no relation, the same mutation, namely Arg413Gln.
CONCLUSIONS
The identical defect which presented in the propositaand her mother could be explained by the genetic analysis of the father and maternal grandfather of the proposita who happened to have the same mutation (Arg413Gln).
目的
研究来自阿根廷的一个 VII 因子（FVII）缺乏症家族。
方法
先证者为一名 14 岁女孩，表现为轻度至中度出血倾向。月经过多通过周期性给予小剂量重组 FVII 浓缩物来控制。先证者的母亲也有类似的出血倾向。
结果
两名患者的 FVII 活性均为正常的 20%；FVII 抗原为正常的 35%。分子生物学研究显示，先证者是 Thr384Met 和 Arg413Gln 复合杂合子。其母亲也有同样的突变。这是由于先证者的父亲和她的外公尽管没有关系，但都携带了相同的突变，即 Arg413Gln。
结论
先证者及其母亲表现出的相同缺陷，可以通过先证者的父亲和外公的基因分析来解释，他们碰巧携带了相同的突变（Arg413Gln）。
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