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

Molecular genetics & genomic medicine - 1 Sept 2023

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

Abstract excerpt

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...

Topics

Child, Preschool
Female
Humans
Ciliary Motility Disorders
East Asian People
Forkhead Transcription Factors
Genotype
Hydrocephalus
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37469238
DOI: 10.1002/mgg3.2235
PMCID: PMC10496049

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