【摘要】 目的总结1例Joubert综合征患儿的临床特征及其致病基因检测,以提高临床医师对该病的认识,为早期诊断提供指导。方法收集患儿的临床及影像学资料,提取患儿及其父母的外周血进行基因检测,确定基因突变位点,进行生物信息学分析。结果患儿主要临床表现有呼吸急促、肌张力减低、异常眼球运动、逐渐出现的发育迟缓,颅脑MRI提示磨牙征,并检测到TCTN1的杂合病理性变异:c. 1063dupG(p. Val355fs),该突变遗传自其母亲。结论具有典型临床表现及特征性的影像学特点,JS即可临床诊断,而基因检测提供了该病的分子学基础,本研究中的TCTN1基因c. 1063dupG(p. Val355fs)杂合突变是新的突变位点。更多还原

【Abstract】 Objective To summarize the clinical features of a child with Joubert syndrome and its associated pathogenic genes which could improve the clinician ’s understanding of the disease and provide guidance for early diagnosis.Methods The clinical and imaging data of the child were collected. The samples of peripheral blood were collected from the child and his parents to detect the genes related to Joubert syndrome. The loci with gene mutations were identified,and a bioinformatic analysis was performed. Results The child showed Shortness of breath,hypotonia,abnormal eye movement and progressive developmental retardation. The molar tooth sign was reflected by the magnetic resonance imaging,and the heterogenetic variation of TC TN1 was detected as c. 1063 dupG( p. Val355 fs). The mutations have been proved to be inherited from his mother. Conclusion With typical clinical manifestations and characteristic imaging features,JS can be clinically diagnosed,and Gene detection provides the genetic molecular basis for the disease. The c.1063 dupG( p. Val355 fs) heterozygous mutation in TCTN1 gene in this study is a newmutant site.更多还原