scholarly journals Founder Mutation inRSPH4AIdentified in Patients of Hispanic Descent with Primary Ciliary Dyskinesia

2013 ◽  
Vol 34 (10) ◽  
pp. 1352-1356 ◽  
Author(s):  
M. Leigh Anne Daniels ◽  
Margaret W. Leigh ◽  
Stephanie D. Davis ◽  
Michael C. Armstrong ◽  
Johnny L. Carson ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Founder Mutation ◽  
Ciliary Dyskinesia

scholarly journals Founder Mutation(s) in theRSPH9Gene Leading to Primary Ciliary Dyskinesia in Two Inbred Bedouin Families

2010 ◽  
Vol 74 (2) ◽  
pp. 117-125 ◽  
Author(s):  
Orit Reish ◽  
Montgomery Slatkin ◽  
Daphne Chapman-Shimshoni ◽  
Arnon Elizur ◽  
Barry Chioza ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Founder Mutation ◽  
Ciliary Dyskinesia

scholarly journals Primary Ciliary Dyskinesia: Ancestral Haplotypes Analysis of the RSPH4A Founder Mutation in Puerto Rico

Cureus ◽  
2021 ◽  
Author(s):  
Wilfredo De Jesús-Rojas ◽  
Dalilah Reyes De Jesús ◽  
Angélica M Nieves ◽  
Ricardo A Mosquera ◽  
Juan C Martinez-Cruzado
Keyword(s):  
Puerto Rico ◽  
Primary Ciliary Dyskinesia ◽  
Founder Mutation ◽  
Ancestral Haplotypes ◽  
Ciliary Dyskinesia

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

Diagnostics ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 281
Author(s):  
Wilfredo De Jesús-Rojas ◽  
Dalilah Reyes-De Jesús ◽  
Ricardo A. Mosquera
Keyword(s):  
Puerto Rican ◽  
Genetic Variants ◽  
Primary Ciliary Dyskinesia ◽  
Founder Mutation ◽  
Clinical Phenotype ◽  
Central Complex ◽  
Genetic Mutations ◽  
Radial Spokes ◽  
Ciliary Dyskinesia ◽  
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.

Pulmonary Infection Related to Mimivirus in Patient with Primary Ciliary Dyskinesia

2020 ◽  
Vol 26 (8) ◽  
Author(s):  
Fatemeh Sakhaee ◽  
Farzam Vaziri ◽  
Golnaz Bahramali ◽  
Seyed Davar Siadat ◽  
Abolfazl Fateh
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Pulmonary Infection ◽  
Ciliary Dyskinesia
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