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The RSPH4A Gene in Primary Ciliary Dyskinesia
Wilfredo De Jesús-Rojas1,2, Jesús Meléndez-Montañez1, José Muñiz-Hernández1
1Department of Pediatrics and Basic Science, Ponce Health Sciences University, Ponce, PR 00716, USA.
International Journal of Molecular Sciences
|February 11, 2023
Summary
Mutations in the RSPH4A gene cause Primary Ciliary Dyskinesia (PCD), a rare genetic disorder affecting cilia. This review details RSPH4A
Area of Science:
- Genetics
- Cell Biology
- Medical Science
Background:
- Primary Ciliary Dyskinesia (PCD) is a rare genetic ciliopathy caused by mutations in over 50 genes.
- The RSPH4A gene is crucial for radial spoke protein structure, essential for ciliary function.
- Pathogenic variants in RSPH4A lead to ciliary dysfunction and recurrent oto-sino-pulmonary infections.
Purpose of the Study:
- To provide a comprehensive review of the RSPH4A gene's role in Primary Ciliary Dyskinesia (PCD).
- To cover basic science aspects and the human clinical phenotype associated with RSPH4A mutations.
- To consolidate current knowledge on RSPH4A in PCD for researchers and clinicians.
Main Methods:
- Literature review of scientific articles and genetic databases.
- Analysis of clinical data associated with RSPH4A variants.
- Synthesis of information on diagnostic tools for PCD.
Main Results:
- Over 30 pathogenic RSPH4A variants are linked to PCD.
- A founder mutation in RSPH4A has been identified in Puerto Rican Hispanics.
- RSPH4A-associated PCD typically lacks laterality defects, complicating diagnosis.
Conclusions:
- RSPH4A is a significant gene in PCD pathogenesis.
- Understanding RSPH4A variants aids in diagnosing and managing PCD.
- Further research into RSPH4A function and diagnostics is warranted.
Keywords:
RSPH4Aciliagenotype-phenotype relationshipshigh-speed video microscopy analysisimmunofluorescencenasal nitric oxideprimary ciliary dyskinesiatransmission electron microscopyMore Related Videos
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