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.