Clinical and genetic analyses of Joubert syndrome in children北大核心CSCD

目的 分析儿童Joubert综合征(Joubert syndrome,JS)的临床特征及遗传学特点。方法 回顾性分析2017年1月—2022年7月郑州大学第三附属医院儿童康复科诊断的20例JS患儿的临床资料、遗传学结果及随访资料。结果 20例JS患儿中,男11例,女9例。患儿临床表现以发育迟缓(20例,100%)、眼球运动异常(19例,95%)、肌张力低下(16例,80%)多见,5例(25%)出生时呼吸节律异常,3例(15%)面容异常(包括前额突出、耳位低、三角口),所有患儿均无肢体畸形。20例(100%)患儿头部影像学均有典型的“磨牙征”、“中线裂征”,6例(30%)患儿眼部检查异常。完成基因检测7例,发现6个致病基因(CPLANE1、RPGRIP1L、MKS1、CC2D2A、CEP120、AHI1基因)。结论 对于发育迟缓患儿,尤其是伴随眼球运动异常、肌张力低下症状,建议完善头部影像学检查明确有无“磨牙征”、“中线裂征”等特征,以排查JS,避免漏诊、误诊。JS有多种致病基因,全外显子组测序可协助诊断。

Clinical and genetic analyses of Joubert syndrome in children

Objective To study the clinical and genetic features of Joubert syndrome (JS) in children.Methods A retrospective analysis was performed on the clinical data, genetic data, and follow-up data of 20 children who were diagnosed with JS in the Department of Children''s Rehabilitation, the Third Affiliated Hospital of Zhengzhou University, from January 2017 to July 2022.Results Among the 20 children with JS, there were 11 boys and 9 girls. The common clinical manifestations were developmental delay (20 children, 100%), abnormal eye movement (19 children, 95%), and hypotonia (16 children, 80%), followed by abnormal respiratory rhythm in 5 children (25%) and unusual facies (including prominent forehead, low-set ears, and triangular mouth) in 3 children (15%), and no limb deformity was observed. All 20 children (100%) had the typical "molar tooth sign" and "midline cleft syndrome" on head images, and 6 children (30%) had abnormal eye examination results. Genetic testing was performed on 7 children and revealed 6 pathogenic genes, i.e., the CPLANE1, RPGRIP1L, MKS1, CC2D2A, CEP120, and AHI1 genes.Conclusions For children with developmental delay, especially those with abnormal eye movement and hypotonia, it is recommended to perform a head imaging examination to determine the presence or absence of "molar tooth sign" and "midline cleft syndrome", so as to screen for JS to avoid missed diagnosis and misdiagnosis. There are many pathogenic genes for JS, and whole-exome sequencing can assist in the diagnosis of JS.