RERE基因变异致神经发育障碍伴或不伴脑眼或心脏异常的临床及遗传学分析  

Clinical and genetic analysis of neurodevelopmental disorders with or without abnormal brain-eye or heart caused by RERE gene mutation

作　　者：李士涛 王莉[2] 雷灿 张莉[3] 胡书新 Li Shitao;Wang Li;Lei Can;Zhang Li;Hu Shuxin(Children’s Health Department,Dezhou Maternal and Child Health Hospital(Dezhou Women and Children’s Hospital),Dezhou 253000,China;Department of Infection Management,Qilu Hospital of Shandong University,Dezhou Hospital,Dezhou 253000,China;Research Center for Child Health,Shandong Provincial Maternal and Child Health Care Hospital Affiliated to Qingdao University,Jinan 250000,China)

机构地区：[1]德州市妇幼保健院(德州市妇女儿童医院)儿童保健科,德州253000 [2]山东大学齐鲁医院德州医院院感科,德州253000 [3]青岛大学附属山东省妇幼保健院儿童健康研究中心,济南250000

出　　处：《国际遗传学杂志》2024年第5期406-410,共5页International Journal of Genetics

摘　　要：目的对1例RERE基因变异致伴或不伴脑眼或心脏异常神经发育障碍患儿行全外显子基因检测遗传学分析,探讨相关遗传学病因。方法回顾性分析1例RERE基因变异患儿历次检查的临床资料,结合国内外文献,分析RERE基因致病性及突变特点。结果全外显子基因检测发现致病性变异,为RERE基因c.4271C>T(p.P1424L)杂合突变,即4271号核苷酸由胞嘧啶C变为胸腺嘧啶T;6月、21月、42月进行体格发育测量和发育水平监测,体格检查提示体重、身高逐渐追赶,适应性发育商提升幅度小,大运动发育商逐步提升,语言、个人社交发育商无明显提升。结论基因检测可用于诊断伴或不伴脑眼或心脏异常神经发育障碍,对早期开展干预训练和改善患儿预后有重要意义。Objective To analyze the genetic causes of neurodevelopmental disorders caused by RERE gene variation with or without brain,eye or heart abnormalities by whole exon gene detection.Methods The clinical data of one child with RERE gene variation were retrospectively analyzed,and the pathogenicity and mutation characteristics of RERE gene were analyzed in combination with domestic and foreign literatures.Results The pathogenic mutation was found in the whole exon gene test,which was a heterozygous mutation of RERE gene c.4271C>T(p.P1424L),that is,nucleotide 4271 changed from cytosine C to thymine T.Physical development measurement and development level monitoring were conducted in June,21 and 42 months.Physical examination indicated that weight and height gradually caught up,the adaptive development quotient was little improved,the gross motor development quotient was gradually improved,and the language and personal social development quotient were not significantly improved.Conclusion Genetic testing can be used to diagnose neurodevelopmental disorders with or without brain eye or heart abnormalities,which is of great significance for early intervention training and improvement of prognosis of children.

关 键 词：RERE基因 神经发育障碍 特殊面容 基因变异 

分 类 号：R725.9[医药卫生—儿科]