The <i>RSPH4A</i> Gene in Primary Ciliary Dyskinesia
The radial spoke head protein 4 homolog A (<i>RSPH4A</i>) gene is one of more than 50 genes that cause Primary ciliary dyskinesia (PCD), a rare genetic ciliopathy. Genetic mutations in the <i>RSPH4A</i> gene alter an important protein structure involved in ciliary pathogenesi...
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MDPI AG
2023-01-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/24/3/1936 |
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| author | Wilfredo De Jesús-Rojas Jesús Meléndez-Montañez José Muñiz-Hernández André Marra-Nazario Francisco Alvarado-Huerta Arnaldo Santos-López Marcos J. Ramos-Benitez Ricardo A. Mosquera |
| author_facet | Wilfredo De Jesús-Rojas Jesús Meléndez-Montañez José Muñiz-Hernández André Marra-Nazario Francisco Alvarado-Huerta Arnaldo Santos-López Marcos J. Ramos-Benitez Ricardo A. Mosquera |
| author_sort | Wilfredo De Jesús-Rojas |
| collection | DOAJ |
| description | The radial spoke head protein 4 homolog A (<i>RSPH4A</i>) gene is one of more than 50 genes that cause Primary ciliary dyskinesia (PCD), a rare genetic ciliopathy. Genetic mutations in the <i>RSPH4A</i> 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 <i>RSPH4A</i> pathogenic variants results in a clinical phenotype characterized by recurrent oto-sino-pulmonary infections. More than 30 pathogenic <i>RSPH4A</i> genetic variants have been associated with PCD. In Puerto Rican Hispanics, a founder mutation (<i>RSPH4A</i> (c.921+3_921+6delAAGT (intronic)) has been described. The spectrum of the <i>RSPH4A</i> 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 <i>RSPH4A</i> gene in PCD, ranging from basic science to human clinical phenotype. |
| first_indexed | 2024-03-11T09:43:13Z |
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| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-11T09:43:13Z |
| publishDate | 2023-01-01 |
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| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-ce7f8fc579c24a5dbf0329688935017d2023-11-16T16:49:56ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672023-01-01243193610.3390/ijms24031936The <i>RSPH4A</i> Gene in Primary Ciliary DyskinesiaWilfredo De Jesús-Rojas0Jesús Meléndez-Montañez1José Muñiz-Hernández2André Marra-Nazario3Francisco Alvarado-Huerta4Arnaldo Santos-López5Marcos J. Ramos-Benitez6Ricardo A. Mosquera7Department of Pediatrics and Basic Science, Ponce Health Sciences University, Ponce, PR 00716, USADepartment of Pediatrics and Basic Science, Ponce Health Sciences University, Ponce, PR 00716, USADepartment of Pediatrics and Basic Science, Ponce Health Sciences University, Ponce, PR 00716, USASchool of Medicine, University of Puerto Rico, Medical Sciences Campus, San Juan, PR 00921, USASchool of Medicine, University of Puerto Rico, Medical Sciences Campus, San Juan, PR 00921, USADepartment of Pediatrics and Basic Science, Ponce Health Sciences University, Ponce, PR 00716, USADepartment of Pediatrics and Basic Science, Ponce Health Sciences University, Ponce, PR 00716, USADepartment of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX 77030, USAThe radial spoke head protein 4 homolog A (<i>RSPH4A</i>) gene is one of more than 50 genes that cause Primary ciliary dyskinesia (PCD), a rare genetic ciliopathy. Genetic mutations in the <i>RSPH4A</i> 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 <i>RSPH4A</i> pathogenic variants results in a clinical phenotype characterized by recurrent oto-sino-pulmonary infections. More than 30 pathogenic <i>RSPH4A</i> genetic variants have been associated with PCD. In Puerto Rican Hispanics, a founder mutation (<i>RSPH4A</i> (c.921+3_921+6delAAGT (intronic)) has been described. The spectrum of the <i>RSPH4A</i> 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 <i>RSPH4A</i> gene in PCD, ranging from basic science to human clinical phenotype.https://www.mdpi.com/1422-0067/24/3/1936<i>RSPH4A</i>primary ciliary dyskinesiaciliagenotype-phenotype relationshipstransmission electron microscopynasal nitric oxide |
| spellingShingle | Wilfredo De Jesús-Rojas Jesús Meléndez-Montañez José Muñiz-Hernández André Marra-Nazario Francisco Alvarado-Huerta Arnaldo Santos-López Marcos J. Ramos-Benitez Ricardo A. Mosquera The <i>RSPH4A</i> Gene in Primary Ciliary Dyskinesia International Journal of Molecular Sciences <i>RSPH4A</i> primary ciliary dyskinesia cilia genotype-phenotype relationships transmission electron microscopy nasal nitric oxide |
| title | The <i>RSPH4A</i> Gene in Primary Ciliary Dyskinesia |
| title_full | The <i>RSPH4A</i> Gene in Primary Ciliary Dyskinesia |
| title_fullStr | The <i>RSPH4A</i> Gene in Primary Ciliary Dyskinesia |
| title_full_unstemmed | The <i>RSPH4A</i> Gene in Primary Ciliary Dyskinesia |
| title_short | The <i>RSPH4A</i> Gene in Primary Ciliary Dyskinesia |
| title_sort | i rsph4a i gene in primary ciliary dyskinesia |
| topic | <i>RSPH4A</i> primary ciliary dyskinesia cilia genotype-phenotype relationships transmission electron microscopy nasal nitric oxide |
| url | https://www.mdpi.com/1422-0067/24/3/1936 |
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