Rett综合征致病基因突变与临床表型的研究

目的 分析Rett综合征的临床特征、分子遗传学特点、扩展表型和报道新发突变，提高对本病的早期鉴别和诊断。方法 收集2017年1月至2019年12月于安徽医科大学第一附属医院儿科就诊的5例Rett综合征患儿临床资料，采用全外显子测序及一代验证方法明确Rett综合征相关突变基因。结果 5例患儿中4例为典型Rett综合征，1例为非典型Rett综合征；其中肾源性血尿等表型既往未见报道；所有患儿均发现MECP2基因的杂合突变，其中4例为点突变，1例为插入突变，该插入突变位点为首次报道，且为罕见男性患儿，其突变遗传自具有表型的母亲；余均为新发的女性患儿，父母表型正常。结论 Rett综合征具有阶段性发展特征，其临床个体差异性较大，基因检测有助于早期确诊。

Analysis of clinical characteristics and MECP2 mutations in children with Rett syndrome

Objective To analyze the clinical and genetic characteristics of Rett syndrome, and study the phenotype and new mutation to improve the early identification and diagnosis of the disease. Methods The clinical data of five Rett syndrome children in the First Affiliated Hospital of Anhui Medical University from January 2017 to December 2019 were enrolled in the study. The whole exon sequencing and Sanger were applied to detect the gene mutation. Results Four of the five children were typical Rett syndrome, one was atypical Rett syndrome. Phenotypes such as renal hematuria had not been reported before. MeCP2 heterozygous gene mutation was found in all children, 4 cases were point mutation, 1 case was insertion mutation, which was first reported and was a rare male child whose mutation was inherited from the mother with phenotypes. The rest cases were the female children with de novo mutation whose parents had no phenotype. Conclusions The clinical presentation may vary widely among individuals based on their mutation. Gene detection is vital for early diagnosis.