Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.

doi:10.1093/hmg/ddu046

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Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.

Human molecular genetics - 1 Jul 2014

Onoufriadis Alexandros, Shoemark Amelia, Schmidts Miriam, Patel Mitali, Jimenez Gina, Liu Hui, Thomas Biju, Dixon Mellisa, Hirst Robert A, Rutman Andrew, Burgoyne Thomas, Williams Christopher, Scully Juliet, Bolard Florence, Lafitte Jean-Jacques, Beales Philip L, Hogg Claire, Yang Pinfen, Chung Eddie M K, Emes Richard D, O'Callaghan Christopher, Bouvagnet Patrice, Mitchison Hannah M

Abstract excerpt

Primary ciliary dyskinesia (PCD) is an inherited chronic respiratory obstructive disease with randomized body laterality and infertility, resulting from cilia and sperm dysmotility. PCD is characterized by clinical variability and extensive genetic heterogeneity, associated with different cilia ultrastructural defects and mutations identified in >20 genes. Next generation sequencing (NGS) technologies therefore...

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Identifiers

PMID: 24518672
DOI: 10.1093/hmg/ddu046
PMCID: PMC4049301

Genes

RSPH1
RSPH9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.PMID 24518672Read ↗

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