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.
维普
万方数据