Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus.

Adam J ShapiroKimberley KaspyM Leigh Ann DanielsJaclyn R StonebrakerVan-Hung NguyenLyne JoyalMichael R KnowlesMaimoona A Zariwala

Published in: Molecular genetics & genomic medicine (2021)

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.

Keyphrases

copy number
subarachnoid hemorrhage
cerebrospinal fluid
mitochondrial dna
primary care
dna methylation
drug induced