Treacher Collins综合征患儿临床特征及致病基因分析

Clinical Features and Pathogenic Genes in Children with Treacher Collins Syndrome

目的分析1例Treacher Collins综合征(treacher collins syndrome,TCS)5个月男婴的临床特征,鉴定其致病基因。方法对患儿和父母进行专科及全身查体,签署知情同意书并抽取外周静脉血,用聚合酶链反应(polymerase chain reaction,PCR)检测技术对TCS致病基因TCOF1的编码区各外显子扩增并测序,分析测序结果及突变位点在多物种间的保守性。结果患儿TCOF1第2外显子c.146 T>C杂合突变,将编码的第49位异亮氨酸替换为苏氨酸,对其父母行突变位点筛查,未发现突变。结论TCS患儿的临床特征为TCS基因诊断及预防提供了依据。

Objective To analysis the clinical characteristics of a 5-month-old male newborn with Treacher Collins syndrome(TCS)collected in the outpatient clinic and the pathogenic gene was detected and analyzed.Methods Collection of medical history,whole body and ear examinations,peripheral venous blood of the child and his parents was performed after the parents signed the informed consent,and the target exons in the coding region of TCOF1 gene were amplified and sequenced by polymerase chain reaction(PCR).The sequencing results and the conserved mutation sites among multiple species were analyzed.Results The child was identified as a heterozygous mutation of c.146 T>C in exon 2 of TCOF1.This mutation site replaced the isoleucine encoding position threonine.The parents were screened for mutation sites and no mutation was found.Conclusions This article reports the typical clinical characteristics of a child with TCS,which provide theoretical and practical basis for clinical diagnosis and prevention at the genetic level.