Identification of an RSPH4A Founder Variant and Newborn Screening for Primary Ciliary Dyskinesia

W. De Jesus-Rojas; Katherine P. Guerra-Torres; Alondra J. Rosado-Ayala; Edwin L. Acevedo-Soto; Marcos J. Ramos‐Benitez; Ricardo A. Mosquera

doi:10.1001/jamanetworkopen.2025.30551

September 5, 2025JAMA Network OpenOpen Access

Identification of an RSPH4A Founder Variant and Newborn Screening for Primary Ciliary Dyskinesia

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Key Points

The study identifies a founder variant of rsp4h4a in Puerto Rico, highlighting its relevance for newborn screening.
Approximately 1% of newborns may carry the rsp4h4a variant, indicating a significant prevalence in the region.
Using a cross-sectional design, the research assesses the feasibility of newborn screening for primary ciliary dyskinesia.
This preliminary work supports the need for more comprehensive screening methods for early diagnosis in high-risk populations.

Implication

Cross-sectional study estimates RSPH4A variant prevalence in Puerto Rico, suggesting newborn screening feasibility.

Abstract

This cross-sectional study estimates the prevalence of an RSPH4A variant identified in Puerto Rico in an effort to evaluate the feasibility of targeted newborn screening for primary ciliary dyskinesia (PCD).

Discussion

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Cite This Study

Jesus-Rojas et al. (2025) studied this question.

synapsesocial.com/papers/68c18f409b7b07f3a0615e26 https://doi.org/10.1001/jamanetworkopen.2025.30551

View Full Paper

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Identification of an RSPH4A Founder Variant and Newborn Screening for Primary Ciliary Dyskinesia

Key Points

Implication

Abstract

Discussion

Cite This Study

Identification of an RSPH4A Founder Variant and Newborn Screening for Primary Ciliary Dyskinesia

Key Points

Implication

Abstract

Discussion

Cite This Study

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