Genetic analysis of a fetus with Coffin-Siris syndrome 2 due to a novel variant of ARID1A gene
10.3760/cma.j.cn511374-20231214-00322
- VernacularTitle:ARID1A基因变异所致Coffin-Siris综合征2型1例胎儿的遗传学分析
- Author:
Yuqiong CHAI
1
;
Jieqiong WANG
;
Yaxin WANG
;
Pai ZHANG
;
Jiapei JIN
;
Ya′nan WANG
Author Information
1. 洛阳市妇幼保健院医学遗传与产前诊断科，洛阳 471000
- Keywords:
Developmental abnormality;
ARID1A gene;
Genetic variant;
Coffin-Siris syndrome 2;
Whole exome sequencing;
Prenatal diagnosis
- From:
Chinese Journal of Medical Genetics
2024;41(10):1255-1258
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic etiology of a fetus with Coffin-Siris syndrome2 (CSS2).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 Medical Ethics Committee of the Luoyang Maternal and Child Health 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+ 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.
