Founder Mutation in RSPH4A Identified in Patients of Hispanic Descent with Primary Ciliary Dyskinesia. Issue 10 (6th August 2013) - Daniels, M. Leigh Anne
Abstract Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive, genetically heterogeneous disorder characterized by ciliary dysfunction resulting in chronic otosino‐pulmonary disease, respiratory distress in term neonates, laterality (situs) defects, and bronchiectasis. Here, we describe a novel splice‐site mutation (c.921+3_6delAAGT) in RSPH4A, which leads to a premature translation termination signal in nine Hispanic subjects with Puerto Rican ancestry with PCD. This mutation is a founder mutation and a common cause of PCD without situs abnormalities in patients of Puerto Rican descent.