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Article

KIAA0586 is Mutated in Joubert Syndrome.

Human mutation - 1 Sept 2015

Bachmann-Gagescu Ruxandra, Phelps Ian G, Dempsey Jennifer C, Sharma Vivek A, Ishak Gisele E, Boyle Evan A, Wilson Meredith, Marques Lourenço Charles, Arslan Mutluay, Shendure Jay, Doherty Dan

Abstract excerpt

Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by a distinctive mid-hindbrain malformation. JS is part of a group of disorders called ciliopathies based on their overlapping phenotypes and common underlying pathophysiology linked to primary cilium dysfunction. Biallelic mutations in one of 28 genes, all encoding proteins localizing to the primary cilium or basal body, can cause JS....

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Identifiers

PMID: 26096313
DOI: 10.1002/humu.22821
PMCID: PMC4537327

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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KIAA0586 is Mutated in Joubert Syndrome.PMID 26096313Read ↗

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Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.Semantic proximity Read ↗

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.Semantic proximity Read ↗

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).Semantic proximity Read ↗

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