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Mutations in human homologue of chicken <i>talpid3</i> gene (<i>KIAA0586</i>) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes

18 Sept 2015

Abstract excerpt

BACKGROUND: In chicken, loss of TALPID3 results in non-functional cilia and short-rib polydactyly syndrome. This phenotype is caused by a frameshift mutation in the chicken ortholog of the human KIAA0586 gene, which encodes a novel coiled-coil domain protein essential for primary ciliogenesis, suggesting that KIAA0586 can be associated with ciliopathy in human beings. METHODS: In our patients with ciliopathy...

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PMID: 26386044
DOI: 10.1136/jmedgenet-2015-103316

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