[Genetic analysis of a fetus with Coffin-Siris syndrome 2 due to a novel variant of ARID1A gene].

Q4 Medicine 中华医学遗传学杂志 Pub Date : 2024-10-10 DOI:10.3760/cma.j.cn511374-20231214-00322

Yuqiong Chai, Jieqiong Wang, Yaxin Wang, Pai Zhang, Jiapei Jin, Ya'nan Wang

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Abstract

Objective: To explore the genetic etiology of a fetus with Coffin-Siris syndrome (CSS).

Methods: A fetus with abnormal ultrasound findings detected at Luoyang Maternal and Child Health Care Hospital in July 2023 was selected as the study subject. Clinical data were analyzed retrospectively. Whole exome sequencing was carried out on fetal tissue and parental peripheral blood samples, and candidate variant was verified by Sanger sequencing and pathogenicity analysis. This study was approved by the Luoyang Maternal and Child Health Care Hospital (Ethics No. LYFY-YCCZ-2023011).

Results: Color Doppler ultrasound at 16⁺ gestational weeks revealed bilateral ventriculomegaly and cerebellar hypoplasia in the fetus. Trio-WES found that the fetus has harbored a heterozygous c.553C>T (p.Gln185Ter) variant of the ARID1A gene, which was verified by Sanger sequencing to have a de novo origin. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.553C>T (p.Gln185Ter) variant of the ARID1A gene was classified as pathogenic (PVS1+PS2_Supporting+PM2_Supporting).

Conclusion: The fetus was diagnosed with CSS type 2, and the heterozygous c.553C>T (p.Gln185Ter) variant of the ARID1A gene probably underlay its brain malformations.

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[对一名因 ARID1A 基因新型变异而患有 Coffin-Siris 综合征 2 的胎儿的遗传分析]。

目的：探讨科芬-西里斯综合征（CSS）胎儿的遗传学病因：方法：选择 2023 年 7 月在洛阳市妇幼保健院发现的一名超声检查异常胎儿为研究对象：方法：选择 2023 年 7 月在洛阳市妇幼保健院发现的一名超声检查结果异常的胎儿作为研究对象。对临床数据进行回顾性分析。对胎儿组织和父母外周血样本进行全外显子组测序，并通过桑格测序和致病性分析验证候选变异。本研究经洛阳市妇幼保健院批准（伦理编号：LYFY-YCCZ-2023011）：结果：16+孕周时的彩色多普勒超声显示胎儿双侧脑室肥大和小脑发育不良。三重WES检测发现，胎儿的ARID1A基因存在c.553C>T（p.Gln185Ter）杂合子变异。根据美国医学遗传学和基因组学学院（ACMG）的指南，ARID1A 基因的 c.553C>T (p.Gln185Ter) 变异被归类为致病性（PVS1+PS2_支持+PM2_支持）：结论：该胎儿被诊断为 CSS 2 型，ARID1A 基因的 c.553C>T (p.Gln185Ter) 杂合子变异可能是其脑畸形的基础。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

中华医学遗传学杂志 Medicine-Medicine (all)

CiteScore

0.50

自引率

0.00%

发文量

9521

期刊介绍： Chinese Journal of Medical Genetics is a medical journal, founded in 1984, under the supervision of the China Association for Science and Technology, sponsored by the Chinese Medical Association (hosted by Sichuan University), and is now a monthly magazine, which attaches importance to academic orientation, adheres to the scientific, scholarly, advanced, and innovative, and has a certain degree of influence in the industry. Chinese Journal of Medical Genetics is a journal of Peking University, and is now included in Peking University Journal (Chinese Journal of Humanities and Social Sciences), CSCD Source Journals of Chinese Science Citation Database (with extended version), Statistical Source Journals (China Science and Technology Dissertation Outstanding Journals), Zhi.com (in Chinese), Wipu (in Chinese), Wanfang (in Chinese), CA Chemical Abstracts (U.S.), JST (Japan Science and Technology Science and Technology), and JST (Japan Science and Technology Science and Technology Research Center). ), JST (Japan Science and Technology Agency), Pж (AJ) Abstracts Journal (Russia), Copernicus Index (Poland), Cambridge Scientific Abstracts, Abstracts and Citation Database, Abstracts Magazine, Medical Abstracts, and so on.