山西医科大学学报2025，Vol.56Issue(1)：91-97,7.DOI:10.13753/j.issn.1007-6611.2025.01.013
一个GLASS综合征家系致病基因的遗传学分析
Genetic analysis of pathogenic genes in a family with GLASS syndrome
摘要
Abstract
Objective To analyze the clinical and molecular genetic characteristics of a family with GLASS syndrome caused by a novel splicing site variation in the SATB2 gene,and provide reference for genetic counseling.Methods Clinical data of two patients with GLASS syndrome in a family were collected and analyzed.Whole-exome sequencing(WES)and genome-wide copy number varia-tion(CNV)were performed on the proband and his parents using next-generation sequencing technology.RNA splicer,an artificial in-telligence(AI)-based mutation splicing prediction tool,was used to predict and assess the mutation.A review of GLASS syndrome-re-lated literature published from January 1989 to September 2023 was conducted through domestic and international literature data-bases.Results The proband and his mother in the family shared consistent phenotypes:mainly intellectual disability,severe delay in language development,and poor social communication skills,facial dysmorphisms(long face,prominent nasal bridge,bulbous nasal tip,flat philtrum,small mouth,low-set ears)and curved fingers.Whole-exome sequencing results showed that the proband and his mother had a novel splice site variant of SATB2 c.1543-1G>A,and the proband's father did not carry the variant.A total of 47 pa-tients were reported in domestic and international literature,and 9 patients had splicing site mutations.Conclusion The new splice site variation of the SATB2 gene is the pathogenic cause of the two patients in this family,which enlarges the variant spectrum of the SATB2 gene and provides a basis for the genetic counseling and the prenatal diagnosis of this family.关键词
SATB2基因/GLASS综合征/SATB2相关综合征/剪接位点变异/Sanger测序/生物信息学分析/全外显子测序分析Key words
SATB2 gene/GLASS syndrome/SATB2-associated syndrome/splice site variation/Sanger sequencing/bioinformatics analysis/whole exome sequencing analysis分类
医药卫生引用本文复制引用
郭敏,郭荣,高景波,曹桂芝,赵晨玥,岳昊,叶婷,薛慧琴..一个GLASS综合征家系致病基因的遗传学分析[J].山西医科大学学报,2025,56(1):91-97,7.基金项目
复杂遗传病远程协同服务网示范应用项目(SJPT-03-16) （SJPT-03-16）
山西省回国留学人员科研教研资助项目(2023-180) （2023-180）
山西省"四个一批"科技兴医创新计划项目医学遗传学研究委级重点实验室建设项目(2021SYS24) （2021SYS24）
山西省卫生健康委员会资助项目(2023016) （2023016）
