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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Nicholas Katsanis and colleagues show that biallelic mutations in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are associated with diverse ciliopathy phenotypes in humans. They further show that pathogenic alleles of TTC21B are present in as many as 5% of ciliopathy cases...

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Main Authors: Davis, Erica E. (Author) , Zhang, Qi (Author) , Liu, Qin (Author) , Diplas, Bill H. (Author) , Davey, Lisa M. (Author) , Hartley, Jane (Author) , Stoetzel, Corinne (Author) , Szymanska, Katarzyna (Author) , Ramaswami, Gokul (Author) , Logan, Clare V. (Author) , Muzny, Donna M. (Author) , Young, Alice C. (Author) , Wheeler, David A. (Author) , Cruz, Pedro (Author) , Morgan, Margaret (Author) , Lewis, Lora R. (Author) , Cherukuri, Praveen (Author) , Maskeri, Baishali (Author) , Hansen, Nancy F. (Author) , Mullikin, James C. (Author) , Blakesley, Robert W. (Author) , Bouffard, Gerard G. (Author) , Gyapay, Gabor (Author) , Rieger, Susanne (Author) , Tönshoff, Burkhard (Author) , Kern, Ilse (Author) , Soliman, Neveen A. (Author) , Neuhaus, Thomas J. (Author) , Swoboda, Kathryn J. (Author) , Kayserili, Hulya (Author) , Gallagher, Tomas E. (Author) , Lewis, Richard A. (Author) , Bergmann, Carsten (Author) , Otto, Edgar A. (Author) , Saunier, Sophie (Author) , Scambler, Peter J. (Author) , Beales, Philip L. (Author) , Gleeson, Joseph G. (Author) , Maher, Eamonn R. (Author) , Attié-Bitach, Tania (Author) , Dollfus, Hélène (Author) , Johnson, Colin A. (Author) , Green, Eric D. (Author) , Gibbs, Richard A. (Author) , Hildebrandt, Friedhelm (Author) , Pierce, Eric A. (Author) , Katsanis, Nicholas (Author)
Format: Article (Journal)
Language:English
Published: 23 January 2011
In: Nature genetics
Year: 2011, Volume: 43, Issue: 3, Pages: 189-196
ISSN:1546-1718
DOI:10.1038/ng.756
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1038/ng.756
Verlag, lizenzpflichtig, Volltext: https://www.nature.com/articles/ng.756
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Author Notes:Erica E. Davis, Qi Zhang, Qin Liu, Bill H. Diplas, Lisa M. Davey, Jane Hartley, Corinne Stoetzel, Katarzyna Szymanska, Gokul Ramaswami, Clare V. Logan, Donna M. Muzny, Alice C. Young, David A. Wheeler, Pedro Cruz, Margaret Morgan, Lora R. Lewis, Praveen Cherukuri, Baishali Maskeri, Nancy F. Hansen, James C. Mullikin, Robert W. Blakesley, Gerard G. Bouffard, Gabor Gyapay, Susanne Rieger, Burkhard Tönshoff, Ilse Kern, Neveen A. Soliman, Thomas J. Neuhaus, Kathryn J. Swoboda, Hulya Kayserili, Tomas E. Gallagher, Richard A. Lewis, Carsten Bergmann, Edgar A. Otto, Sophie Saunier, Peter J. Scambler, Philip L. Beales, Joseph G. Gleeson, Eamonn R. Maher, Tania Attié-Bitach, Hélène Dollfus, Colin A. Johnson, Eric D. Green, Richard A. Gibbs, Friedhelm Hildebrandt, Eric A. Pierce & Nicholas Katsanis
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Summary:Nicholas Katsanis and colleagues show that biallelic mutations in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are associated with diverse ciliopathy phenotypes in humans. They further show that pathogenic alleles of TTC21B are present in as many as 5% of ciliopathy cases, supporting an oligogenic model of disease.
Item Description:Gesehen am 29.04.2022
Corrigendum vom 27. April 2011: In the version of this article initially published, the authors should have acknowledged that the work was also funded by a grant from the European Union (EU-SYSCILIA) to E.E.D., C.A.J., P.L.B. and N.K. The error has been corrected in the HTML and PDF versions of the article
Physical Description:Online Resource
ISSN:1546-1718
DOI:10.1038/ng.756

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