Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: De Jesús-Rojas, Wilfredo, Muñiz-Hernández, José, Alvarado-Huerta, Francisco, Meléndez-Montañez, Jesús M., Santos-López, Arnaldo J., Mosquera, Ricardo A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
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
_version_ 1784714890283319296
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
work_keys_str_mv AT dejesusrojaswilfredo thegeneticsofprimaryciliarydyskinesiainpuertorico
AT munizhernandezjose thegeneticsofprimaryciliarydyskinesiainpuertorico
AT alvaradohuertafrancisco thegeneticsofprimaryciliarydyskinesiainpuertorico
AT melendezmontanezjesusm thegeneticsofprimaryciliarydyskinesiainpuertorico
AT santoslopezarnaldoj thegeneticsofprimaryciliarydyskinesiainpuertorico
AT mosqueraricardoa thegeneticsofprimaryciliarydyskinesiainpuertorico
AT dejesusrojaswilfredo geneticsofprimaryciliarydyskinesiainpuertorico
AT munizhernandezjose geneticsofprimaryciliarydyskinesiainpuertorico
AT alvaradohuertafrancisco geneticsofprimaryciliarydyskinesiainpuertorico
AT melendezmontanezjesusm geneticsofprimaryciliarydyskinesiainpuertorico
AT santoslopezarnaldoj geneticsofprimaryciliarydyskinesiainpuertorico
AT mosqueraricardoa geneticsofprimaryciliarydyskinesiainpuertorico