PDF(Pubmed)
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.
摘要：
原发性纤毛运动障碍（PCD）是一种以活动纤毛功能障碍为特征的遗传性疾病，主要以常染色体隐性遗传或X连锁方式遗传。我们在此报告了一名29岁的PCD女性，该女性由FOXJ1外显子3中的单核苷酸缺失引起的杂合移码突变引起。已报道FOXJ1中的杂合从头突变是PCD的常染色体显性原因。病人有反位，先天性心脏病,不孕症,和脑积水.然而,鼻腔一氧化氮水平正常。长期大环内酯治疗非常有效。这是日本首例由FOXJ1变体引起的PCD病例报告。
