Founder Mutation in RSPH4A Identified in Patients of Hispanic Descent with Primary Ciliary Dyskinesia. Issue 10 (6th August 2013)

• Record Type: Journal Article
• Authors: Daniels, M. Leigh Anne; Leigh, Margaret W.; Davis, Stephanie D.; Armstrong, Michael C.; Carson, Johnny L.; Hazucha, Milan; Dell, Sharon D.; Eriksson, Maria; Collins, Francis S.; Knowles, Michael R.; Zariwala, Maimoona A.
• Is Part Of: Human mutation. Volume 34:Issue 10(2013:Oct.)
• Page Start: 1352
• Page End: 1356
• Publication Date: 2013-08-06
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22371
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22371-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>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 <italic>RSPH4A</italic>, 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. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg3hnbnkzg" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>