Journal
DIAGNOSTICS
Volume 11, Issue 2, Pages -Publisher
MDPI
DOI: 10.3390/diagnostics11020281
Keywords
RSPH4A; primary ciliary dyskinesia; founder mutation; cilia; Puerto Rico
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Funding
- Hispanic Center of Excellence, University of Puerto Rico School of Medicine, U.S. Department of Health and Human Services, Health Resources and Services Administration, Bureau of Health Workforce [D34HP24463]
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PCD is a rare ciliopathy that can result in chronic oto-sino-pulmonary disease and bronchiectasis, with genetic mutations in over 45 genes, including RSPH4A, potentially causing the condition. RSPH4A mutations can lead to central complex apparatus abnormalities, with the [c.921 + 3_6delAAGT] founder mutation identified as a cause of PCD without laterality defects.
Primary ciliary dyskinesia (PCD) is a rare, heterogeneous ciliopathy resulting in chronic oto-sino-pulmonary disease, bronchiectasis, newborn respiratory distress, and laterality defects. PCD diagnosis can be achieved by following diagnostic algorithms that include electron microscopy, genetics, and ancillary testing. Genetic mutations in more than 45 genes, including RSPH4A, can lead to PCD. RSPH4A mutations located on chromosome six, affect radial spokes and results in central complex apparatus abnormalities. The RSPH4A [c.921 + 3_6delAAGT] founder mutation was described as one cause of PCD without laterality defects in Puerto Rico. Additionally, there are further diagnostic challenges present in the Puerto Rican population to diagnose PCD. We describe the demographics, clinical features, and RSPH4A genetic variants in 13 patients with clinical PCD affecting 11 Puerto Ricans from unrelated families.
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