Yu Lihua, Yang Chaoxiang, Shang Ning, Ding Hongke, Zhu Juan, Zhu Yuanyuan, Tan Haowen, Zhang Yan
Medical Genetics Centre, Guangdong Women and Children Hospital, Guangzhou, China.
Department of Radiology, Guangdong Women and Children Hospital, Guangzhou, China.
Front Genet. 2022 Jul 19;13:836853. doi: 10.3389/fgene.2022.836853. eCollection 2022.
A dilated lateral ventricle is a relatively common finding on prenatal ultrasound, and the causes are complex. We aimed to explore the etiology of a fetus with a dilated lateral ventricle. Trio whole-exome sequencing was performed to detect causative variants. A variant of (NM_020791.2: c.227A>G) was detected in the proband and evaluated for potential functional impacts using a variety of prediction tools. Droplet digital polymerase chain reaction was used to exclude the parental mosaicism and to verify the phasing of the variant. Based on peripheral blood analysis, the parents did not exhibit mosaicism at this site, and the variant was paternally derived. Here, we describe a fetus with a likely pathogenic variant of who had a dilated lateral ventricle and a series of particular phenotypes. This case expands the clinical spectrum of -associated disorders. We propose a method for solving genetic disorders in which the responsible genes have not yet gone through ClinGen curation, particularly for prenatal cases.
侧脑室扩张是产前超声检查中相对常见的发现，其病因复杂。我们旨在探讨一例侧脑室扩张胎儿的病因。进行了三联体全外显子组测序以检测致病变异。在先证者中检测到一个（NM_020791.2: c.227A>G）变异，并使用多种预测工具评估其潜在功能影响。采用液滴数字聚合酶链反应排除亲本嵌合现象并验证该变异的相位。基于外周血分析，父母在该位点未表现出嵌合现象，且该变异来自父亲。在此，我们描述了一例携带可能致病的[基因名称]变异的胎儿，其患有侧脑室扩张及一系列特殊表型。该病例扩展了与[基因名称]相关疾病的临床谱。我们提出了一种解决尚未经过临床基因组资源（ClinGen）评估的致病基因相关遗传疾病的方法，特别是针对产前病例。
