FOXJ1 Variants Causing Primary Ciliary Dyskinesia with Hydrocephalus: A Case Report from Japan

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...

Full description

Saved in:
Bibliographic Details
Published in:Internal Medicine 2024/05/15, Vol.63(10), pp.1433-1437
Main Authors: Ito, Masashi, Morimoto, Kozo, Ohfuji, Takashi, Miyabayashi, Akiko, Wakabayashi, Keiko, Yamada, Hiroyuki, Hijikata, Minako, Keicho, Naoto
Format: Article
Language:English
Subjects:
Adult
bronchiectasis
Case Report
Cilia
Ciliary Motility Disorders - complications
Ciliary Motility Disorders - diagnosis
Ciliary Motility Disorders - genetics
Female
Forkhead Transcription Factors - genetics
FOXJ1
Frameshift Mutation
Gene deletion
Genetic disorders
Heart diseases
Humans
Hydrocephalus
Hydrocephalus - diagnosis
Hydrocephalus - genetics
Infertility
Japan
Kartagener Syndrome - complications
Kartagener Syndrome - diagnosis
Kartagener Syndrome - genetics
Nitric oxide
Primary ciliary dyskinesia
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0918-2918
1349-7235
1349-7235
DOI:10.2169/internalmedicine.2565-23