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Article

Primary Ciliary Dyskinesia Diagnostic Challenges: Understanding the Clinical Phenotype of the Puerto Rican RSPH4A Founder Mutation

1
Department of Pediatrics, Medical Sciences Campus, School of Medicine, University of Puerto Rico, San Juan 00921, Puerto Rico
2
Department of Pediatrics, Houston Medical School, University of Texas Health Science Center, Houston, TX 77030, USA
*
Author to whom correspondence should be addressed.
Academic Editor: Thomas Burgoyne
Diagnostics 2021, 11(2), 281; https://doi.org/10.3390/diagnostics11020281
Received: 17 January 2021 / Revised: 31 January 2021 / Accepted: 8 February 2021 / Published: 11 February 2021
(This article belongs to the Special Issue Progress in Diagnosing and Managing Primary Ciliary Dyskinesia)
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. View Full-Text
Keywords: RSPH4A; primary ciliary dyskinesia; founder mutation; cilia; Puerto Rico RSPH4A; primary ciliary dyskinesia; founder mutation; cilia; Puerto Rico
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MDPI and ACS Style

De Jesús-Rojas, W.; Reyes-De Jesús, D.; Mosquera, R.A. Primary Ciliary Dyskinesia Diagnostic Challenges: Understanding the Clinical Phenotype of the Puerto Rican RSPH4A Founder Mutation. Diagnostics 2021, 11, 281. https://doi.org/10.3390/diagnostics11020281

AMA Style

De Jesús-Rojas W, Reyes-De Jesús D, Mosquera RA. Primary Ciliary Dyskinesia Diagnostic Challenges: Understanding the Clinical Phenotype of the Puerto Rican RSPH4A Founder Mutation. Diagnostics. 2021; 11(2):281. https://doi.org/10.3390/diagnostics11020281

Chicago/Turabian Style

De Jesús-Rojas, Wilfredo, Dalilah Reyes-De Jesús, and Ricardo A. Mosquera. 2021. "Primary Ciliary Dyskinesia Diagnostic Challenges: Understanding the Clinical Phenotype of the Puerto Rican RSPH4A Founder Mutation" Diagnostics 11, no. 2: 281. https://doi.org/10.3390/diagnostics11020281

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