CLTC基因突变导致智力障碍56型1例并文献复习  

A case of mental retardation-56 caused by the CLTC gene mutation and literature review

作　　者：麦炳彬 莫文辉 李奕 涂巧雯 黄铭皓 刘浩杰 曹云 肖昕[3] Mai Bingbin;Mo Wenhui;Li Yi;Tu Qiaowen;Huang Minghao;Liu Haojie;Cao Yun;Xiao Xin(Department of Neonatology,Foshan Fosun Chancheng Hospital,Foshan 528000,China;Department of Neonatology,Children′s Hospital of Fudan University,Shanghai 201102,China;Department of Neonatology,the Sixth Affiliated Hospital of Sun Yat-sen University,Laboratory of Pediatric Genetic Metabolic Diseases,Guangzhou 510655,China)

机构地区：[1]佛山市复星禅诚医院新生儿科,佛山528000 [2]复旦大学附属儿科医院新生儿科,上海201102 [3]中山大学附属第六医院新生儿科,小儿遗传代谢病实验室,广州510655

出　　处：《中华实用儿科临床杂志》2025年第2期133-137,共5页Chinese Journal of Applied Clinical Pediatrics

基　　金：佛山市自筹经费类科技计划项目(2220001004162);佛山市卫健局医学科研课题(20240720A010427)。

摘　　要：回顾性分析2021年10月在佛山市复星禅诚医院新生儿科确诊的1例智力障碍56型(MRD56)患儿的临床资料及遗传学特征。患儿, 男, 因"早产34+2周, 气促, 呼吸困难0.5 h"入院。新生儿期主要表现为面容特殊、肌张力低下、撤机及喂养困难、喉喘鸣。婴儿期表现为全面精神运动发育迟缓、智力障碍、癫痫等。头颅磁共振成像提示髓鞘化延迟、小脑及胼胝体发育不良。全外显子测序提示CLTC基因新发错义突变c.3334T>C(p.Trp1112Arg), 确诊MRD56。经文献检索已知全球共报道MRD56 32例, 以特殊面容、智力障碍、精神运动发育迟缓为主要临床表现。病因为CLTC基因突变, 导致其编码的网格蛋白结构异常, 影响囊泡循环及神经递质传递。本研究为CLTC基因变异导致MRD56的国内首次报道, 并发现了新的临床表型, 丰富了该病的表型谱, 为临床医师认识及研究该病提供了基础。The clinical data and genetic characteristics of one child with mental retardation-56(MRD56)diagnosed at the Department of Neonatology,Foshan Fosun Chancheng Hospital in October 2021 were retrospectively analyzed.The patient was admitted to the hospital with"34+2 weeks of preterm birth,shortness of breath,and dyspnea for 0.5 hours".In the neonatal period,the patient had special facial features,hypotonia,weaning and feeding difficulties,laryngeal stridor.In infancy,the patient showed global psychomotor development delay,intellectual disability,epilepsy,etc.Magnetic resonance imaging of the brain showed delayed myelination and dysplasia of the cerebellum and corpus callosum.Whole-exome sequencing showed that the CLTC gene had a new missense mutation c.3334T>C(p.Trp1112Arg),and MRD56 was confirmed.A total of 32 cases of MRD56 were reported worldwide,with special facial features,intellectual disability,and psychomotor retardation as the main clinical manifestations.The cause is a mutation in the CLTC gene,which leads to abnormality in the structure of the clathrin encoded,thus affecting neurotransmitter transmission.This is the first report of MRD56 caused by the CLTC gene mutation in China,and a new clinical phenotype has been discovered.The finding enriches the phenotypic spectrum of the disease and provides a basis for clinicians to understand and study the disease.

关 键 词：婴儿 新生 CLTC基因 智力障碍56型 全外显子测序 

分 类 号：R72[医药卫生—儿科]