%0 Case Reports
%T FOXJ1 Variants Causing Primary Ciliary Dyskinesia with Hydrocephalus: A Case Report from Japan.
%A Ito M
%A Morimoto K
%A Ohfuji T
%A Miyabayashi A
%A Wakabayashi K
%A Yamada H
%A Hijikata M
%A Keicho N
%J Intern Med
%V 63
%N 10
%D 2024 May 15
%M 37813609
%F 1.282
%R 10.2169/internalmedicine.2565-23
%X Primary ciliary dyskinesia (PCD) is a genetic disease characterized by motile cilia dysfunction, mostly inherited in an autosomal recessive or X-linked manner. We herein report a 29-year-old woman with PCD caused by a heterozygous frameshift mutation due to a single nucleotide deletion in exon 3 of FOXJ1. Heterozygous de novo mutations in FOXJ1 have been reported as an autosomal-dominant cause of PCD. The patient had situs inversus, congenital heart disease, infertility, and hydrocephalus. However, the nasal nitric oxide level was normal. Long-term macrolide therapy was remarkably effective. This is the first case report of PCD caused by a FOXJ1 variant in Japan.