Novel variants identified in five Chinese families with Joubert Syndrome: a case report

BMC Medical Genomics

Case Report

Lulu Wang¹  Xiaoyan Xu¹  Liwei Fang¹  Shanai Pei¹  Li Yang¹  De Wu¹ 

[1] Pediatric Neurorehabilitation Center, Pediatric Department, The First Affiliated Hospital of Anhui Medical University, 230000, Hefei, China;

关键词: Joubert syndrome;    TCTN2;    CPLANE1;    INPP5E;    NPHP1;    CC2D2A;   

DOI  :  10.1186/s12920-023-01669-7

 received in 2023-01-17, accepted in 2023-09-20,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundJoubert syndrome (JS) is a group of rare ciliopathies, mainly characterized by cerebellar dysplasia representing the “molar tooth sign (MTS)” on neuroimaging, hypotonia, and developmental delay. Having a complicated genotype-phenotype correlation due to its rich genetic heterogeneity, JS is usually combined with other organic defects affecting the retina, kidney, and liver. This report aimed to present new cases and novel variants of JS.Case presentationFive unrelated patients who were diagnosed with JS, with or without typical clinical characteristics, received integrated examinations, including whole-exome sequencing (WES) and Sanger sequencing. We identified nine pathogenic variants in the TCTN2, CPLANE1, INPP5E, NPHP1, and CC2D2A genes.ConclusionFour novel pathogenic mutations in the TCTN2, CPLANE1, and INPP5E genes were reported. The findings broadened the genotypic spectrum of JS and contributed to a better understanding of genotype-phenotype correlation.

【 授权许可】

CC BY   
© BioMed Central Ltd., part of Springer Nature 2023

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