hrp0097p1-135 | Multisystem Endocrine Disorders | ESPE2023

A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review

Gao hiyang , Zhang Qianwen , Feng Biyun , Gu Shili , Li Zhiying , Sun Lianping , Yao Ru-en , Yu Tingting , Ding Yu , Wang Xiumin

Background: Primary ciliary dyskinesia (PCD) is a type of ciliary dyskinesia that is usually caused by autosomal recessive inheritance and can manifest as recurrent respiratory infections, bronchiectasis, infertility, laterality defects, and chronic otolaryngological disease. Although ependymal cilia, which affect the flow of cerebrospinal fluid in the central nervous system, have much in common with respiratory cilia in terms of structure and function, hydroc...