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Article

Unveiling the Pathogenic Role of Novel CPLANE1 Compound Heterozygous Variants in Joubert Syndrome: Insights Into mRNA Stability and NMD Pathway.

Journal of cellular and molecular medicine - 1 Mar 2025

Hong Zhidan, Xiang Sheng, Chen Zhiying, Qiu Xueping, Zhang Li, Ma Ling, Wang Mei

Abstract excerpt

Joubert syndrome (JS) is a rare neurodevelopmental disorder associated with mutations in genes involved in ciliary function. Germline variants in CPLANE1 have been implicated in JS. In this study, we investigated a family with three adverse pregnancies characterised by fetal malformations consistent with JS. Whole-exome sequencing (WES) identified compound heterozygous variants in CPLANE1: c.8893C>T (p.Gln2965*)...

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Source

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Identifiers

PMID: 40074699
DOI: 10.1111/jcmm.70484
PMCID: PMC11903199

Genes

CPLANE1
SMG1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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