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The Genetics of Primary Ciliary Dyskinesia in Puerto Rico

Wilfredo De Jesús-Rojas1,2, José Muñiz-Hernández3, Francisco Alvarado-Huerta1

  • 1Department of Pediatrics-Anatomy and Neuroanatomy, University of Puerto Rico, Medical Sciences Campus, San Juan, PR 00921, USA.

Diagnostics (Basel, Switzerland)
|May 28, 2022
PubMed

Insights

Primary ciliary dyskinesia (PCD) in Puerto Rico is often caused by a specific founder mutation in the RSPH4A gene. This study analyzed genetic reports to understand the prevalence of PCD variants in the island

Area of Science:

  • Genetics
  • Rare Diseases
  • Pulmonology

Background:

  • Primary ciliary dyskinesia (PCD) is a genetic disorder affecting cilia function, leading to respiratory issues and other health problems.
  • Over 50 genes are implicated in PCD, with the RSPH4A variant previously noted in Hispanic populations of Puerto Rican ancestry.
  • The frequency of other PCD-related genetic variants in Puerto Rico remained largely uncharacterized.

Purpose of the Study:

  • To determine the prevalence and spectrum of pathogenic variants in genes associated with Primary ciliary dyskinesia (PCD) within the Puerto Rican population.
  • To investigate the frequency of the RSPH4A (c.921+3_6delAAGT) founder mutation and other PCD-related variants in Puerto Rico.
  • To provide a foundation for understanding genotype-phenotype correlations in Puerto Rican Hispanics with PCD.

Main Methods:

  • Retrospective chart review of 127 genetic reports from Puerto Rican individuals screened for PCD variants between 2018 and 2022.
  • Analysis of genetic screening data to identify pathogenic variants and their frequencies.
  • Focus on the RSPH4A (c.921+3_6delAAGT) variant and other commonly implicated PCD genes.

Main Results:

  • 29.1% of the 127 subjects screened presented with pathogenic variants related to Primary ciliary dyskinesia (PCD).
  • 13.4% of subjects were homozygous for the RSPH4A (c.921+3_6delAAGT) founder mutation, confirming its significant role.
  • RSPH4A and ZMYND10 were identified as the most common genes harboring pathogenic variants in this cohort.

Conclusions:

  • The study reaffirms that a founder pathogenic variant in RSPH4A (c.921+3_6delAAGT) is a predominant cause of Primary ciliary dyskinesia (PCD) in Puerto Rico.
  • Understanding the genetic landscape of PCD in Puerto Rico is crucial for future diagnostic and research efforts.
  • Further investigation into genotype-phenotype relationships is warranted for the Puerto Rican Hispanic population with diverse ancestry.

Keywords:
Puerto RicoRSPH4Afounder mutationpathogenicprimary ciliary dyskinesiavariant of uncertain significance

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