Article
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.
American journal of human genetics - 5 Jan 2017
Paff Tamara, Loges Niki T, Aprea Isabella, Wu Kaman, Bakey Zeineb, Haarman Eric G, Daniels Johannes M A, Sistermans Erik A, Bogunovic Natalija, Dougherty Gerard W, Höben Inga M, Große-Onnebrink Jörg, Matter Anja, Olbrich Heike, Werner Claudius, Pals Gerard, Schmidts Miriam, Omran Heymut, Micha Dimitra
Abstract excerpt
Defects in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD), characterized by chronic airway disease, infertility, and left-right body axis disturbance. Here we report maternally inherited and de novo mutations in PIH1D3 in four men affected with PCD. PIH1D3 is located on the X chromosome and is involved in the preassembly of both outer (ODA) and inner (IDA) dynein arms of cilia and sperm...
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