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Pediatric primary ciliary dyskinesia with rare genetic variants: Synonymous RSPH4A and potential NFE2L2 modifier of DNAH9 phenotype - 2-case report.

Medicine - 5 Jun 2026

Guo Cheng, Zhu Yuyao, Lu Hong, Liu Kai

Abstract excerpt

RATIONALE: Primary ciliary dyskinesia (PCD) is easily underdiagnosed in children without laterality defects. We report 2 pediatric cases of PCD, highlighting a candidate pathogenic synonymous RSPH4A variant and a possible modifier effect of NFE2L2 on DNAH9-related disease. PATIENT CONCERNS: Case 1: a 5-year-old girl presented with chronic wet cough and recurrent pulmonary consolidations. Case 2: a 5-year-old boy...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42260890
DOI: 10.1097/MD.0000000000049153
PMCID: PMC13246097

Genes

DNAH9
NFE2L2
RSPH4A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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