TCF4基因突变致皮特-霍普金斯综合征2例报告并文献复习  

Pitt-Hopkins Syndrome Caused by TCF4 Gene Mutation:A Report of 2 Cases and Literature Review

作　　者：陶茜 霍洪亮[1] 夏秦 吉永春[1] 张何威[1] 曹徐君[1] 顾琴[1] TAO Qian;HUO Hongliang;XIA Qin;JI Yongchun;ZHANG Hewei;CAO Xujun;GU Qin(Department of Rehabilitation,Children′s Hospital of Soochow University,Suzhou 215000,China)

机构地区：[1]苏州大学附属儿童医院康复科,江苏苏州215000

出　　处：《医学综述》2024年第14期1781-1786,共6页Medical Recapitulate

摘　　要：目的总结分析2例特殊皮特-霍普金斯综合征(PTHS)患儿的临床特征和基因突变。方法对2例PTHS患儿的临床资料和基因测序结果进行回顾分析,并复习典型临床表现相关的病例报道及相关文献。结果2例PTHS患儿均为男性,表现为特殊面容,发育迟缓。头颅磁共振成像、脑电图、血液生化检查、外周血染色体、血尿遗传代谢筛查均无异常。第1例患儿2岁,基因测序结果显示转录因子4(TCF4)基因17外显子区域杂合变异,为首次报道致病的新发突变c.1504C>T,可导致氨基酸p.Q502*改变。第2例患儿10岁,基因测序结果显示TCF4基因12外显子区域新发变异,c.990G>A,可导致氨基酸p.Ser330=改变。检索到相关文献110篇,纳入文献复习15篇,报道40种TCF4基因突变,分别位于外显子7~19,涉及缺失突变、插入突变、无义突变、剪切突变和错义突变。结论2例首次报道的TCF4基因突变位点丰富了PTHS的基因变异谱,为临床诊断和遗传咨询提供依据。Objective To summarize and analyze the clinical features and gene mutations of two special pediatric patients of Pitt-Hopkins syndrome(PTHS).Methods The clinical data and gene sequencing results of PTHS in the two children were retrospectively analyzed,and case reports and relevant literature related to typical clinical manifestations were reviewed.Results The two children with PTHS were were male presented with characteristic facial features and developmental delay.The brain magnetic resonance imaging,electroencephalograms,blood biochemical examinations,chromosomes analyses on peripheral blood and hematuria genetic metabolism screenings all found no abnormalities.The first 2-year-old patient showed heterozygous variation in the exon 17 region of the transcription factor 4(TCF4)gene during gene sequencing,and was the first newly reported pathogenic mutation c.1504C>T,that could cause amino acid p.Q502*change.The second case was 10 years old.His gene sequencing showed a de novo mutation in the exon 12 region of the TCF4 gene,c.990G>A,which could cause the amino acid p.Ser330=change.110 relevant literatures were retrieved and 15 were included in this literature review.A total of 40 TCF4 mutations located in exons 7-19 were reported,with deletion mutations,insertion mutations,nonsense mutations,splicing mutations,and missense mutations involved.Conclusion The two TCF4 gene mutation sites which were first reported enrich the genetic variation spectrum of PTHS,providing evidence for the clinical diagnosis and genetic counseling.

关 键 词：皮特-霍普金斯综合征 转录因子4基因突变 儿童 

分 类 号：R729[医药卫生—儿科]