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Mutations in CSPP1 Cause Primary
Cilia Abnormalities and Joubert Syndrome
with or without Jeune Asphyxiating Thoracic Dystrophy
Karina Tuz, Ruxandra Bachmann-Gagescu, Diana R. O’Day, Kiet Hua, Christine R. Isabella,
Ian G. Phelps, Allan E. Stolarski, Brian J. O’Roak, Jennifer C. Dempsey, Charles Lourenco,
Abdulrahman Alswaid, Carsten G. Bo ¨nnemann, Livija Medne, Sheela Nampoothiri, Zornitza Stark,
Richard J. Leventer, Meral Topc ¸u, Ali Cansu, Sujatha Jagadeesh, Stephen Done, Gisele E. Ishak,
Ian A. Glass, Jay Shendure, Stephan C.F. Neuhauss, Chad R. Haldeman-Englert, Dan Doherty,* and
Russell J. Ferland*
(The American Journal of Human Genetics 94, 62–72; January 2, 2014)
In the original version of this paper published online December 19, 2013, the Figure 1 legend unfortunately contained a
few errors regarding the coloring of variants in Figure 1A. Nonsense truncating variants were incorrectly described as red,
and frameshift truncating variants were incorrectly described as blue. The correct description appears below, in the print
version of this paper, and online. The authors regret these errors.
(A) CSPP1 schematic showing the coiled-coil domains (gray rectangles). Nonsense truncating variants (blue) are
indicated above the protein at their approximate locations. Frameshift truncating variants (orange), variants affecting
canonical splice sites (green), and a missense variant (a coding variant that results in a frameshift because of aberrant
splicing; black; see Figure S1) are indicated below the protein. The number of times a specific variant was identified in
the cohort is indicated in parentheses after the variant.
*Correspondence: email@example.com (D.D.), firstname.lastname@example.org (R.J.F.)
http://dx.doi.org/10.1016/j.ajhg.2014.01.003. ?2014 by The American Society of Human Genetics. All rights reserved.
The American Journal of Human Genetics 94, 310–311, February 6, 2014