ArticleCytoskeleton (Hoboken, N.J.)2026
Novel Pathogenic Biallelic Variants in KIAA0586 Expand the Variant Spectrum of Ciliopathies.
Article in Cytoskeleton (Hoboken, N.J.), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Novel Pathogenic Biallelic Variants in KIAA0586 Expand the Variant Spectrum of Ciliopathies.Cytoskeleton (Hoboken, N.J.) · 2026Article
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7 authors.
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Abstract
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 identified two pathogenic variants in KIAA0586 (c.3944 T>G and c.3686 + 3A>G), consistent with an autosomal recessive inheritance pattern. These findings were confirmed through Sanger sequencing of the proband and his parents. This study identifies two novel pathogenic variants in KIAA0586, provides a genetic diagnosis for this patient as JBTS23, and expands the variant spectrum of KIAA0586 associated with JBTS.
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