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Article

Novel Pathogenic Biallelic Variants in KIAA0586 Expand the Variant Spectrum of Ciliopathies.

Cytoskeleton (Hoboken, N.J.) - 1 Aug 2026

Shen Yue, He Ruida, Lu Chao, Wang Ziheng, Yu Yufei, Cao Zongfu, Luo Minna

Abstract excerpt

Joubert syndrome (JBTS) is a group of recessive neurodevelopmental disorders classified as a specific type of ciliopathy with genetic heterogeneity. JBTS23, a subtype of Joubert syndrome, is caused by variations in the KIAA0586 gene. In this study, we report a 9-month-old boy diagnosed with JBTS based on the presence of the molar tooth sign in the midbrain and global developmental delay. Whole-exome sequencing...

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Identifiers

PMID: 41020477
DOI: 10.1002/cm.70047
PMCID: PMC13485191

Genes

KIAA0586

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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Novel Pathogenic Biallelic Variants in KIAA0586 Expand the Variant Spectrum of Ciliopathies.PMID 41020477Read ↗

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