Authors: Nicolaus Schwerk; Iain A. Drummond; Johanna Raidt; Katrina A. Diaz; Edgar A. Otto; Julian Esteve-Rudd; Trevor F.C. Batten; Joseph Washburn; Jan Halbritter; Susan J. Allen; Philip C. Spear; Brian J. Mitchell; Shawn Levy; Heike Olbrich; Margaret Rosenfeld; Serge Amselem; Rim Hjeij; Stefan Kohl; Dagmar Wieczorek; Jonathan D. Porath; Michael R. Knowles; Dalal A. Al-Mutairi; Eamonn Sheridan; Lucy Morgan; Claudius Werner; Daw Yang Hwang; Gabriele Köhler; Moumita Chaki; Thomas W. Ferkol; Sharon D. Dell; Svjetlana Lovric; Scott D. Sagel; Heymut Omran; Jadranka Sertić; Weibin Zhou; Kenneth N. Olivier; Niki T. Loges; Margaret W. Leigh; Shuling Fan; David S. Williams; Maimoona A. Zariwala; Whitney E. Wolf; Sivakumar Natarajan; Małgorzata Kurkowiak; Toby W. Hurd; Gerard W. Dougherty; Petra Pennekamp; Kerstin Landwehr; Mohamed Adan; Rannar Airik; Kimberlie A. Burns; Heon Yung Gee; Jessica E. Pittman; Cordula Koerner-Rettberg; Friedhelm Hildebrandt; Kim G. Nielsen; Zhaoxia Sun; Israel Amirav

Venue: The American Journal of Human Genetics

Type: Publication

Abstract: Defects of motile cilia cause primary ciliary dyskinesia (PCD), characterized by recurrent respiratory infections and male infertility. Using whole-exome resequencing and high-throughput mutation analysis, we identified recessive biallelic mutations in ZMYND10 in 14 families and mutations in the recently identified LRRC6 in 13 families. We show that ZMYND10 and LRRC6 interact and that certain ZMYND10 and LRRC6 mutations abrogate the interaction between the LRRC6 CS domain and the ZMYND10 C-terminal domain. Additionally, ZMYND10 and LRRC6 coloca... (read more)

DOI: 10.1016/j.ajhg.2013.06.007