Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.

  title={Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.},
  author={Michael R Knowles and Lawrence E Ostrowski and Margaret W. Leigh and Patrick R. Sears and Stephanie D Davis and Whitney E Wolf and Milan Hazucha and Johnny L. Carson and Kenneth N. Olivier and Scott D Sagel and Margaret Rosenfeld and Thomas Ferkol and Sharon D Dell and Carlos E Milla and Scott H. Randell and Weining Yin and Aruna Sannuti and Hilda M Metjian and Peadar G Noone and Peter J Noone and Christina A. Olson and Michael V. Patrone and Hong V T Dang and Hye-Seung Lee and Toby Hurd and Heon Yung Gee and Edgar A. Otto and Jan Halbritter and Stefan Kohl and Martin Kircher and Jeffrey E. Krischer and Michael J Bamshad and Deborah A. Nickerson and Friedhelm Hildebrandt and Jay Shendure and Maimoona A Zariwala},
  journal={American journal of respiratory and critical care medicine},
  volume={189 6},
RATIONALE Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of motile cilia, but the genetic cause is not defined for all patients with PCD. OBJECTIVES To identify disease-causing mutations in novel genes, we performed exome sequencing, follow-up characterization, mutation scanning, and genotype-phenotype studies in patients with PCD. METHODS Whole-exome sequencing was performed using NimbleGen capture and Illumina HiSeq sequencing. Sanger-based sequencing… CONTINUE READING
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