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Review

The RSPH4A Gene in Primary Ciliary Dyskinesia

by
Wilfredo De Jesús-Rojas
1,2,*,
Jesús Meléndez-Montañez
1,
José Muñiz-Hernández
1,
André Marra-Nazario
2,
Francisco Alvarado-Huerta
2,
Arnaldo Santos-López
1,
Marcos J. Ramos-Benitez
1 and
Ricardo A. Mosquera
3
1
Department of Pediatrics and Basic Science, Ponce Health Sciences University, Ponce, PR 00716, USA
2
School of Medicine, University of Puerto Rico, Medical Sciences Campus, San Juan, PR 00921, USA
3
Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX 77030, USA
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2023, 24(3), 1936; https://doi.org/10.3390/ijms24031936
Submission received: 1 December 2022 / Revised: 29 December 2022 / Accepted: 16 January 2023 / Published: 18 January 2023
(This article belongs to the Section Molecular Genetics and Genomics)
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Abstract

The radial spoke head protein 4 homolog A (RSPH4A) gene is one of more than 50 genes that cause Primary ciliary dyskinesia (PCD), a rare genetic ciliopathy. Genetic mutations in the RSPH4A gene alter an important protein structure involved in ciliary pathogenesis. Radial spoke proteins, such as RSPH4A, have been conserved across multiple species. In humans, ciliary function deficiency caused by RSPH4A pathogenic variants results in a clinical phenotype characterized by recurrent oto-sino-pulmonary infections. More than 30 pathogenic RSPH4A genetic variants have been associated with PCD. In Puerto Rican Hispanics, a founder mutation (RSPH4A (c.921+3_921+6delAAGT (intronic)) has been described. The spectrum of the RSPH4A PCD phenotype does not include laterality defects, which results in a challenging diagnosis. PCD diagnostic tools can combine transmission electron microscopy (TEM), nasal nitric oxide (nNO), High-Speed Video microscopy Analysis (HSVA), and immunofluorescence. The purpose of this review article is to provide a comprehensive overview of current knowledge about the RSPH4A gene in PCD, ranging from basic science to human clinical phenotype.
Keywords: RSPH4A; primary ciliary dyskinesia; cilia; genotype-phenotype relationships; transmission electron microscopy; nasal nitric oxide; immunofluorescence; high-speed video microscopy analysis RSPH4A; primary ciliary dyskinesia; cilia; genotype-phenotype relationships; transmission electron microscopy; nasal nitric oxide; immunofluorescence; high-speed video microscopy analysis

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MDPI and ACS Style

De Jesús-Rojas, W.; Meléndez-Montañez, J.; Muñiz-Hernández, J.; Marra-Nazario, A.; Alvarado-Huerta, F.; Santos-López, A.; Ramos-Benitez, M.J.; Mosquera, R.A. The RSPH4A Gene in Primary Ciliary Dyskinesia. Int. J. Mol. Sci. 2023, 24, 1936. https://doi.org/10.3390/ijms24031936

AMA Style

De Jesús-Rojas W, Meléndez-Montañez J, Muñiz-Hernández J, Marra-Nazario A, Alvarado-Huerta F, Santos-López A, Ramos-Benitez MJ, Mosquera RA. The RSPH4A Gene in Primary Ciliary Dyskinesia. International Journal of Molecular Sciences. 2023; 24(3):1936. https://doi.org/10.3390/ijms24031936

Chicago/Turabian Style

De Jesús-Rojas, Wilfredo, Jesús Meléndez-Montañez, José Muñiz-Hernández, André Marra-Nazario, Francisco Alvarado-Huerta, Arnaldo Santos-López, Marcos J. Ramos-Benitez, and Ricardo A. Mosquera. 2023. "The RSPH4A Gene in Primary Ciliary Dyskinesia" International Journal of Molecular Sciences 24, no. 3: 1936. https://doi.org/10.3390/ijms24031936

APA Style

De Jesús-Rojas, W., Meléndez-Montañez, J., Muñiz-Hernández, J., Marra-Nazario, A., Alvarado-Huerta, F., Santos-López, A., Ramos-Benitez, M. J., & Mosquera, R. A. (2023). The RSPH4A Gene in Primary Ciliary Dyskinesia. International Journal of Molecular Sciences, 24(3), 1936. https://doi.org/10.3390/ijms24031936

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