关键词: Joubert综合征；　CPLANE1基因；　小脑蚓部发育不良；　基因-表型关系

Abstract: 　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.

Key words: 　Joubert syndrome;　CPLANE1 gene;　cerebellar vermis hypoplasia;　gene-phenotype correlations