青岛大学学报（医学版）2024，Vol.60Issue(1)：43-46,4.DOI:10.11712/jms.2096-5532.2024.60.028
Treacher Collins综合征1例基因突变分析
Gene mutation analysis of a patient with Treacher Collins syndrome
摘要
Abstract
Objective To analyze the genetic changes of a patient with Treacher Collins syndrome(TCS)and explore the genotype-phenotype relationship.Methods The whole-genomic DNA and RNA were extracted from the peripheral venous blood of the proband and her parents.Whole-exome sequencing was used to detect the gene mutations of the proband,followed by verifi-cation with Sanger sequencing in the proband and her parents.Results The proband met the typical clinical symptoms of TCS.A mutation of c.3183G＞A(p.Q1061=)was detected at the last base of exon 18 of the TCOF1 gene in this case,but not in her parents with a normal phenotype,indicating a de-novo genetic mutation.The RNA validation analysis showed a significant diffe-rence(t=-27.488,P＜0.01)in the TCOF1 mRNA level between the proband and healthy controls.Conclusion The c.3183-G＞A mutation of the TCOF1 gene is the probable pathogenic mutation of TCS.This study is helpful for understanding and impro-ving the genetic basis of Chinese patients with TCS.关键词
Treacher Collins综合征/全外显子组测序/基因,TCOF1/基因突变Key words
Treacher Collins syndrome/whole exome sequencing/gene,TCOF1/mutation分类
医药卫生引用本文复制引用
王小雨,沈露,王凤琦,张铷,刘世国..Treacher Collins综合征1例基因突变分析[J].青岛大学学报（医学版）,2024,60(1):43-46,4.基金项目
国家自然科学基金面上项目(30971586) （30971586）
