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Article

Heterozygous cis HYDIN mutations cause primary ciliary dyskinesia.

Med (New York, N.Y.) - 10 Jan 2025

Suryadinata Randy, Martinello Paul, Bennett-Wood Vicki, Robinson Phil

Abstract excerpt

BACKGROUND: The product of ciliary gene HYDIN is an integral component for c2b projection within the motile cilia central pair (CP) apparatus. Biallelic mutations of this gene cause primary ciliary dyskinesia (PCD), an uncommon heterogeneous recessive disorder affecting motile cilia, resulting in defective mucociliary clearance that leads to chronic suppurative lung disease. METHODS: Nasal brushing samples were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39317196
DOI: 10.1016/j.medj.2024.08.007

Genes

HYDIN
CP
SPEF2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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