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

ABSTRACT:

Background

Joubert 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 presentation

Five 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.

Conclusion

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SUBMITTER: Fang L 

PROVIDER: S-EPMC10512497 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature