Autosomal dominant variants in<i>FOXJ1</i>causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus

Abstract

FOXJ1 pathogenic variants cause PCD in a de novo, autosomal dominant inheritance pattern, and are associated with hydrocephalus. Physicians treating patients with hydrocephalus and chronic oto-sino-pulmonary disease should be aware of this PCD association and test for FOXJ1 variants.