一家系Joubert综合征17型2例基因-表型分析

Genotype-phenotype analysis of two cases with Joubert syndrome 17 in a family

目的探讨Joubert综合征的临床表现、基因-表型关系。方法分析一家系Joubert综合征2例患儿的临床和影像资料,以及患儿及父母的靶向基因组测序结果;复习Joubert综合征相关文献。结果姐姐18岁,弟弟13岁,均有肌张力低下、发育迟缓,无眼、肾、肝脏受累,韦氏智商分别为64、71。头颅磁共振(MRI)提示"臼齿征"。基因检测显示CPLANE1基因存在复合杂合变异c.-47-3C>A、c.8263dupA,分别来自父母,明确诊断为Joubert综合征17型,单纯型Joubert综合征。结论发现国内未见报道的Joubers综合征患者CPLANE1基因突变位点。

Objective To explore the clinical feature,genotype-phenotype correlations of Joubert syndrome(JS).Methods Clinical data,imaging features of two children with JS in a family were collected,targeted genome sequencing was applied to examine the DNA sample of all the members of the family.Literatures of JS were reviewed.Results The sister is 18 years old,and younger brother was 13 years old,their main manifestations were hypotonia and developmental delay.No anomaly was found in eye,kidney,and liver.Brain MRI showed"molar tooth sign".Intelligence quotient(IQ)of the sister and the younger brother by Wechsler Intelligence Scale was 64 and 71,respectively.Genetic tests revealed compound heterozygous variants of c.8263dupA inherited from mother and c.-47-3C>A from father in the CPLANE1 gene which were segregated in an autosomal recessive mode of inheritance.The siblings were diagnosed as JS type 17,classic JS.Conclusion The variants in the CPLANE1 gene of the siblings were firstly reported in China.