BCL11B基因变异相关神经系统发育障碍1例  

A case of neurodevelopmental disorder associated with BCL11B gene variant

作　　者：张利明 刘磊[2] 杨建伟[1] 孙红启 杨俊梅[1] 杨志晓[3] 陈永兴 Zhang Liming;Liu Lei;Yang Jianwei;Sun Hongqi;Yang Junmei;Yang Zhixiao;Chen Yongxing(Department of Clinical Laboratory,Children's Hospital Affiliated to Zhengzhou University,Henan Children's Hospital,Zhengzhou Children's Hospital,Zhengzhou Key Laboratory of Children's Infection and Immunity,Zhengzhou 450018,China;Pediatric Medical Institute,Children's Hospital Afiliated to Zhengzhou University,Henan Children's Hospital,Zhengzhou Children's Hospital,Henan Provincial Key Laboratory for Genetic and Metabolic Disease in Children,Zhengzhou 450018,China;Department of Neurology,Children's Hospital Affiliated to Zhengzhou University,Henan Children's Hospital,Zhengzhou Children's Hospital,Zhengzhou 450018,China;Department of Endocrine Genetics and Metabolism,Children's Hospital Affiliated to Zhengzhou University,Henan Children's Hospital,Zhengzhou Children's Hospital,Zhengzhou 450018,China)

机构地区：[1]郑州大学附属儿童医院、河南省儿童医院郑州儿童医院检验科、郑州市儿童感染与免疫重点实验室,郑州450018 [2]郑州大学附属儿童医院、河南省儿童医院郑州儿童医院儿研所、河南省儿童遗传代谢性疾病重点实验室,郑州450018 [3]郑州大学附属儿童医院、河南省儿童医院郑州儿童医院神经内科,郑州450018 [4]郑州大学附属儿童医院、河南省儿童医院郑州儿童医院内分泌遗传代谢科,郑州450018

出　　处：《中华儿科杂志》2025年第2期204-205,共2页Chinese Journal of Pediatrics

基　　金：河南省医学科技攻关计划联合共建项目(LHGJ20240560)。

摘　　要：患儿,女,7月龄,因不会竖头、不会独坐入院。体格检查发现有特殊面容(细眉、眼距增宽、长人中、小嘴、鼻孔向上、低鼻梁、双耳后旋、双眼球内聚),竖头不稳,会一侧翻身,独坐不稳,抓物笨拙,四肢肌张力减低。全外显子组测序显示BCL11B基因第4外显子存在c.19441965del(p.Gly649fs)新发杂合移码变异,根据美国医学遗传学和基因组学学会指南判定为致病变异。患儿诊断为BCL11B基因变异相关神经系统发育障碍。

关 键 词：肌张力减低 特殊面容 全外显子组测序 双眼球 医学遗传学 眼距 体格检查 基因组学 

分 类 号：R748[医药卫生—神经病学与精神病学]