A novel homozygous RSPH4A variant in a family with primary ciliary dyskinesia and literature review
Chenling Shen,
Yilin Shen,
Weiyi Huang
et al.
Abstract:Introduction: Primary ciliary dyskinesia (PCD) is a rare heterogeneous disease caused by abnormalities in motile cilia. In this case report, we first analyzed the clinical and genetic data of a proband who was suspected of having PCD on the basis of her clinical and radiological findings.Methods: Whole-exome sequencing was performed, and a variant in the RSPH4A gene was identified in the proband. Sanger sequencing was used for validation of RSPH4A variants in the proband, her sister, her daughter and her paren… Show more
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