KIAA0586基因突变所致Joubert综合征1例  

A case report of Joubert syndrome caused by KIAA0586 gene mutation

作　　者：张会婷 刘春艳 曾琦 叶园珍 林素芳[3] 邹东方[3] 廖建湘[3] Zhang Huiting;Liu Chunyan;Zeng Qi;Ye Yuanzhen;Lin Sufang;Zou Dongfang;Liao Jianxiang(Department of Neurology,Shenzhen Children′s Hospital,China Medical University,Shenzhen 518038,China;Department of Respiratory,Shenzhen Children′s Hospital,Shenzhen 518038,China;Department of Neurology,Shenzhen Children′s Hospital,Shenzhen 518038,China)

机构地区：[1]中国医科大学深圳市儿童医院神经内科,深圳518038 [2]深圳市儿童医院呼吸内科,深圳518038 [3]深圳市儿童医院神经内科,深圳518038

出　　处：《中华实用儿科临床杂志》2022年第15期1184-1186,共3页Chinese Journal of Applied Clinical Pediatrics

基　　金：广东省高水平临床重点专科(深圳市配套建设经费)资助(SZGSP012)。

摘　　要：对深圳市儿童医院2020年7月就诊的1例Joubert综合征患儿的临床表型、影像学特征及基因学结果进行回顾分析,并对相关文献进行复习总结。先证者婴儿期以呼吸异常及发育迟缓为主要表现,颅脑磁共振成像(MRI)提示"臼齿征",符合Joubert综合征诊断。基因检测提示其携带KIAA0586基因复合杂合变异,2个变异位点均未见文献报道,其中一个为同义突变。先证者是国内第1例KIAA0586基因突变所致的Joubert综合征患儿。Joubert综合征是一种脑发育异常综合征,以临床表现异质性高,头颅MRI示臼齿征为其特征性表现,可累及多系统,早期识别干预对其预后有益。The main clinical phenotypes,imaging features and genetic test results of a child with Joubert syndrome treated in Shenzhen Children′s Hospital in July 2020 were analyzed retrospectively,and the literature on Joubert syndrome was summarized.The main manifestations of the protester during infancy were respiratory abnormalities and developmental retardation.The brain magnetic resonance imaging(MRI)showed a"molar sign",which was consistent with the diagnosis of Joubert syndrome.Genetic testing suggested that the protestor carried complex heterozygous variations of KIAA0586 gene.Two variants were not reported previously,one of which was synonymous mutation.The child is the first case of Joubert syndrome caused by KIAA0586 gene in China.Joubert syndrome is a rare congenital brain development malformation characterized by high clinical heterogeneity and MRI molar signs.It may involve multiple systems.Early identification and intervention can improve outcomes.

关 键 词：JOUBERT综合征 KIAA0586基因 臼齿征 同义突变 

分 类 号：R725.9[医药卫生—儿科]