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September 10, 2025Open Access

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

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.

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).

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

Key Points

Abstract

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