TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

  title={TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum},
  author={Erica E Davis and Qi Zhang and Qin Liu and Bill H Diplas and Lisa M. Davey and Jane Hartley and Corinne Stoetzel and Katarzyna M. Szymańska and Gokul Ramaswami and Clare V Logan and Donna M. Muzny and Alice N C Young and David A. Wheeler and Pedro M. Rodr{\'i}guez Cruz and Margaret B. Morgan and L. Ryan Lewis and Praveen F. Cherukuri and Baishali Maskeri and Nancy F. Hansen and James C. Mullikin and R. W. Blakesley and Gerard G. Bouffard and G{\'a}bor Gyapay and Susanne Reiger and Burkhard Toenshoff and Ilse Kern and Neveen A Soliman and Thomas J. Neuhaus and Kathryn J Swoboda and H{\"u}lya Kayserili and Tomas E. Gallagher and Richard Alan Lewis and Carsten Bergmann and Edgar A. Otto and Sophie Saunier and Peter J. Scambler and Philip L. Beales and Joseph G Gleeson and Eamonn R Maher and Tania Atti{\'e}-Bitach and H{\'e}l{\`e}ne J Dollfus and Colin A. Johnson and Eric D. Green and Richard A. Gibbs and Friedhelm Hildebrandt and Eric A. Pierce and Nicholas Katsanis},
  booktitle={Nature Genetics},
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 asphyxiating thoracic dystrophy. Moreover, although resequencing of TTC21B in a large… CONTINUE READING