Maria B Padua, Benjamin M Helm, John R Wells, Amanda M Smith, Helen M Bellchambers, Arthi Sridhar, Stephanie M Ware
FOXJ1 is expressed in ciliated cells of the airways, testis, oviduct, central nervous system, and the embryonic left-right organizer. Ablation or targeted mutation of Foxj1 in mice, zebrafish, and frogs results in loss of ciliary motility and/or reduced length and number of motile cilia, affecting the establishment of the left-right axis. In humans, heterozygous pathogenic variants in FOXJ1 cause ciliopathy leading to situs inversus, obstructive hydrocephalus, and chronic airway disease. Here, we report a novel truncating FOXJ1 variant (c...
May 9, 2023: Human Molecular Genetics