Article
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Nature genetics - 1 Mar 2011
Davis Erica E, Zhang Qi, Liu Qin, Diplas Bill H, Davey Lisa M, Hartley Jane, Stoetzel Corinne, Szymanska Katarzyna, Ramaswami Gokul, Logan Clare V, Muzny Donna M, Young Alice C, Wheeler David A, Cruz Pedro, Morgan Margaret, Lewis Lora R, Cherukuri Praveen, Maskeri Baishali, Hansen Nancy F, Mullikin James C, Blakesley Robert W, Bouffard Gerard G, Gyapay Gabor, Rieger Susanne, Tönshoff Burkhard, Kern Ilse, Soliman Neveen A, Neuhaus Thomas J, Swoboda Kathryn J, Kayserili Hulya, Gallagher Tomas E, Lewis Richard A, Bergmann Carsten, Otto Edgar A, Saunier Sophie, Scambler Peter J, Beales Philip L, Gleeson Joseph G, Maher Eamonn R, Attié-Bitach Tania, Dollfus Hélène, Johnson Colin A, Green Eric D, Gibbs Richard A, Hildebrandt Friedhelm, Pierce Eric A, Katsanis Nicholas
Abstract excerpt
Ciliary dysfunction leads to a broad range of overlapping phenotypes, collectively termed ciliopathies. This grouping is underscored by genetic overlap, where causal genes can also contribute modifier alleles to clinically distinct disorders. Here we show that mutations in TTC21B, which encodes the retrograde intraflagellar transport protein IFT139, cause both isolated nephronophthisis and syndromic Jeune...
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