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

  • 黄琴蓉,罗敏娜,陈玉霞,等
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  • 1. Department of rehabilitation, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children’s Hospital of Chongqing Medical University, Chongqing Key Laboratory of Pediatrics, Chongqing. 400014, China; 2. National Research Institute for Family Planning, Beijing 100081, China

Online published: 2020-08-11

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.

Cite this article

黄琴蓉,罗敏娜,陈玉霞,等 . Genotype-phenotype analysis of two cases with Joubert syndrome 17 in a family[J]. Journal of Clinical Pediatrics, 2020 , 38(8) : 566 . DOI: 10.3969/j.issn.1000-3606.2020.08.002

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