TCTN3基因变异致Joubert综合征1例报告及基因分析  

Joubert syndrome caused by TCTN3 gene mutation:a case report and gene analysis

作　　者：宋凡旭 李晓捷[1] 庞伟[1] 李雪梅[1] 赵宏博[1] 张丽华[1] SONG Fanxu;LI Xiaojie;PANG Wei;LI Xuemei;ZHAO Hongbo;ZHANG Lihua(College of Rehabilitation Medicine,Jamusi University,The Third Affiliated Hospital of Jiamusi University,Jamusi 154002,China)

机构地区：[1]佳木斯大学康复医学院,佳木斯大学附属第三医院脑瘫康复科,黑龙江省儿童神经康复重点实验室,黑龙江佳木斯154002

出　　处：《中国中西医结合儿科学》2024年第2期140-144,共5页Chinese Pediatrics of Integrated Traditional and Western Medicine

基　　金：2022年度黑龙江省自然科学基金联合引导项目(LH2022H092);黑龙江省卫生健康委科研课题(2020-311);佳木斯大学人才类(自然类)青年创新人才培养计划项目(JMSUQP2020022)。

摘　　要：目的探讨Joubert综合征的临床表现及基因分析。方法对就诊于佳木斯大学附属第三医院的1例TCTN3基因变异所致的Joubert综合征患儿的临床资料及基因结果进行分析。结果患儿5个月13 d,母孕期行彩超产检及腹部胎儿MRI提示胎儿小脑蚓部及脑干发育异常。患儿就诊时主要临床表现为可见发作性呼吸急促、肌张力低下、发育迟缓;头颅磁共振提示“磨牙征”“蝙蝠翼”状第四脑室;全外显子测序显示TCTN3基因存在杂合变异c.776dupT、c.737-2A>T,分别来自父母,明确诊断为Joubert综合征18型。TCTN3基因变异引起的Joubert综合征为国内首次报道,其中c.737-2A>T位点变异国内外均未见报道。该患儿经3个月的康复治疗后,气促发作频率减少,追视追听明显改善,运动能力、社会适应性等显著提高。结论发现国内未见报道的Joubert综合征患者TCTN3基因变异。Joubert综合征患者应积极进行康复治疗,并定期评估眼、肾、肝等脏器的功能,以及长期综合康复治疗和追踪观察。Objective To investigate the clinical manifestations and gene analysis of Joubert syndrome.Methods The clinical data and gene results of a child with Joubert syndrome caused by TCTN3 gene mutation were analyzed in the Third Affiliated Hospital of Jiamusi University.Results The patient was 5 months and 13 days old.The Color Doppler ultrasound and abdominal fetal MRI during pregnancy showed that fetal cerebellar vermis and brain stem were abnormal.The main clinical manifestations of the child on visiting the hospital were paroxysmal tachypnea,hypotonia and delayed development.Magnetic resonance imaging of the skull showed"molar sign"and"bat wing"-shaped fourth ventricle.The whole exon sequencing showed that there was heterozygous variation c.776dupT,c 737-2A>T of TCTN3 gene,respectively from parents,and it was definitely diagnosed as Joubert syndrome type 18.Joubert syndrome caused by TCTN3 gene mutation was first reported in China,among which c 737-2A>T mutation had not been reported at home or abroad.After 3 months of rehabilitation treatment,the frequency of shortness of breath decreased,the follow-up of sight and hearing improved significantly,and the motor ability and social adaptability improved significantly.Conclusion TCTN3 gene mutation is found in patients with Joubert syndrome that has not been reported in China.The patients with Joubert syndrome should take active rehabilitation treatment,the functions of the eyes,kidneys,liver and other organs should be evaluated regularly,and the patients should take long-term comprehensive rehabilitation treatment and follow-up observation.

关 键 词：JOUBERT综合征 TCTN3 磨牙征 小脑和脑干发育缺陷 

分 类 号：R729[医药卫生—儿科]