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• W2195292030 endingPage "665" @default.
• W2195292030 startingPage "657" @default.
• W2195292030 abstract "<h3>Background</h3> Bidirectional intraflagellar transport (IFT) consists of two major protein complexes, IFT-A and IFT-B. In contrast to the IFT-B complex, all components of IFT-A have recently been linked to human ciliopathies when defective. We therefore hypothesised that mutations in additional IFT-B encoding genes can be found in patients with multisystemic ciliopathies. <h3>Methods</h3> We screened 1628 individuals with reno-ocular ciliopathies by targeted next-generation sequencing of ciliary candidate genes, including all IFT-B encoding genes. <h3>Results</h3> Consequently, we identified a homozygous mutation in <i>IFT81</i> affecting an obligatory donor splice site in an individual with nephronophthisis and polydactyly. Further, we detected a loss-of-stop mutation with extension of the deduced protein by 10 amino acids in an individual with neuronal ceroid lipofuscinosis-1. This proband presented with retinal dystrophy and brain lesions including cerebellar atrophy, a phenotype to which the <i>IFT81</i> variant might contribute. Cultured fibroblasts of this latter affected individual showed a significant decrease in ciliated cell abundance compared with controls and increased expression of the transcription factor <i>GLI2</i> suggesting deranged sonic hedgehog signalling. <h3>Conclusions</h3> This work describes identification of mutations of <i>IFT81</i> in individuals with symptoms consistent with the clinical spectrum of ciliopathies. It might represent the rare case of a core IFT-B complex protein found associated with human disease. Our data further suggest that defects in the IFT-B core are an exceedingly rare finding, probably due to its indispensable role for ciliary assembly in development." @default.
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• W2195292030 date "2015-08-14" @default.
• W2195292030 modified "2023-10-17" @default.
• W2195292030 title "<i>IFT81</i>, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype" @default.
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• W2195292030 doi "https://doi.org/10.1136/jmedgenet-2014-102838" @default.
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