全外显子组测序鉴定一例中国女性怀非免疫水肿胎儿的候选致病变异

背景:非免疫性水肿可由一组异质性条件引起。一些基因包括GUSB, EPHB4和PIEZO1与NIHF有关，只有少数报道了EPHB4基因。 方法:我们报告一位39岁的中国女性，有不良妊娠史，包括多次非免疫性水肿胎和自然流产。通过全外显子测序鉴定与非免疫性水肿胎相关的候选致病变异。Background: Non-immune hydrops is caused by a heterogeneous set of conditions. Multiple genes including GUSB, EPHB4 and PIEZO1 are associated with NIHF, yet only a handful of studies have reported on the EPHB4 gene. Methods: We present a 39-year-old Chinese female with a history of adverse pregnancies, including multiple cases of non-immune hydrops fetalis and spontaneous abortions. Candidate pathogenic variants associated with non-immune hydrops fetalis were identified via whole-exome sequencing.

搜集汇总

背景与挑战

背景概述

该数据集基于一例39岁中国女性怀非免疫水肿胎儿的案例，通过全外显子组测序技术，鉴定与水肿相关的候选致病变异。研究突出了EPHB4基因在非免疫性水肿中的罕见性，并针对不良妊娠史进行遗传分析，有助于深化对罕见遗传病因的理解。数据集特点包括使用先进测序方法、聚焦特定人群案例，以及探索基因与疾病关联的临床应用价值。