Ontology highlight
ABSTRACT:
SUBMITTER: Paff T
PROVIDER: S-EPMC5223094 | biostudies-literature | 2017 Jan
REPOSITORIES: biostudies-literature
American journal of human genetics 20161229 1
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 flagella. Loss-of-function mutations in PIH1D3 lead to absent ODAs and reduced to abse ...[more]