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The Genetics of Primary Ciliary Dyskinesia in Puerto Rico
Primary ciliary dyskinesia (PCD) has been linked to more than 50 genes that cause a spectrum of clinical symptoms, including newborn respiratory distress, sinopulmonary infections, and laterality abnormalities. Although the RSPH4A (c.921+3_6delAAGT) pathogenic variant has been related to Hispanic gr...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9139572/ https://www.ncbi.nlm.nih.gov/pubmed/35626283 http://dx.doi.org/10.3390/diagnostics12051127 |
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author | De Jesús-Rojas, Wilfredo Muñiz-Hernández, José Alvarado-Huerta, Francisco Meléndez-Montañez, Jesús M. Santos-López, Arnaldo J. Mosquera, Ricardo A. |
author_facet | De Jesús-Rojas, Wilfredo Muñiz-Hernández, José Alvarado-Huerta, Francisco Meléndez-Montañez, Jesús M. Santos-López, Arnaldo J. Mosquera, Ricardo A. |
author_sort | De Jesús-Rojas, Wilfredo |
collection | PubMed |
description | Primary ciliary dyskinesia (PCD) has been linked to more than 50 genes that cause a spectrum of clinical symptoms, including newborn respiratory distress, sinopulmonary infections, and laterality abnormalities. Although the RSPH4A (c.921+3_6delAAGT) pathogenic variant has been related to Hispanic groups with Puerto Rican ancestry, it is uncertain how frequently other PCD-implicated genes are present on the island. A retrospective chart review of n = 127 genetic reports from Puerto Rican subjects who underwent genetic screening for PCD variants was conducted from 2018 to 2022. Of 127 subjects, 29.1% subjects presented PCD pathogenic variants, and 13.4% were homozygous for the RSPH4A (c.921+3_6delAAGT) founder mutation. The most common pathogenic variants were in RSPH4A and ZMYND10 genes. A description of the frequency and geographic distribution of implicated PCD pathogenic variants in Puerto Rico is presented. Our findings reconfirm that the presence of PCD in Puerto Rico is predominantly due to a founder pathogenic variant in the RSPH4A (c.921+3_6delAAGT) splice site. Understanding the frequency of PCD genetic variants in Puerto Rico is essential to map a future genotype-phenotype PCD spectrum in Puerto Rican Hispanics with a heterogeneous ancestry. |
format | Online Article Text |
id | pubmed-9139572 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-91395722022-05-28 The Genetics of Primary Ciliary Dyskinesia in Puerto Rico De Jesús-Rojas, Wilfredo Muñiz-Hernández, José Alvarado-Huerta, Francisco Meléndez-Montañez, Jesús M. Santos-López, Arnaldo J. Mosquera, Ricardo A. Diagnostics (Basel) Article Primary ciliary dyskinesia (PCD) has been linked to more than 50 genes that cause a spectrum of clinical symptoms, including newborn respiratory distress, sinopulmonary infections, and laterality abnormalities. Although the RSPH4A (c.921+3_6delAAGT) pathogenic variant has been related to Hispanic groups with Puerto Rican ancestry, it is uncertain how frequently other PCD-implicated genes are present on the island. A retrospective chart review of n = 127 genetic reports from Puerto Rican subjects who underwent genetic screening for PCD variants was conducted from 2018 to 2022. Of 127 subjects, 29.1% subjects presented PCD pathogenic variants, and 13.4% were homozygous for the RSPH4A (c.921+3_6delAAGT) founder mutation. The most common pathogenic variants were in RSPH4A and ZMYND10 genes. A description of the frequency and geographic distribution of implicated PCD pathogenic variants in Puerto Rico is presented. Our findings reconfirm that the presence of PCD in Puerto Rico is predominantly due to a founder pathogenic variant in the RSPH4A (c.921+3_6delAAGT) splice site. Understanding the frequency of PCD genetic variants in Puerto Rico is essential to map a future genotype-phenotype PCD spectrum in Puerto Rican Hispanics with a heterogeneous ancestry. MDPI 2022-05-02 /pmc/articles/PMC9139572/ /pubmed/35626283 http://dx.doi.org/10.3390/diagnostics12051127 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article De Jesús-Rojas, Wilfredo Muñiz-Hernández, José Alvarado-Huerta, Francisco Meléndez-Montañez, Jesús M. Santos-López, Arnaldo J. Mosquera, Ricardo A. The Genetics of Primary Ciliary Dyskinesia in Puerto Rico |
title | The Genetics of Primary Ciliary Dyskinesia in Puerto Rico |
title_full | The Genetics of Primary Ciliary Dyskinesia in Puerto Rico |
title_fullStr | The Genetics of Primary Ciliary Dyskinesia in Puerto Rico |
title_full_unstemmed | The Genetics of Primary Ciliary Dyskinesia in Puerto Rico |
title_short | The Genetics of Primary Ciliary Dyskinesia in Puerto Rico |
title_sort | genetics of primary ciliary dyskinesia in puerto rico |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9139572/ https://www.ncbi.nlm.nih.gov/pubmed/35626283 http://dx.doi.org/10.3390/diagnostics12051127 |
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