{Reference Type}: Case Reports
{Title}: FOXJ1 Variants Causing Primary Ciliary Dyskinesia with Hydrocephalus: A Case Report from Japan.
{Author}: Ito M;Morimoto K;Ohfuji T;Miyabayashi A;Wakabayashi K;Yamada H;Hijikata M;Keicho N;
{Journal}: Intern Med
{Volume}: 63
{Issue}: 10
{Year}: 2024 May 15
{Factor}: 1.282
{DOI}: 10.2169/internalmedicine.2565-23
{Abstract}: 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.