{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T00:55:38Z","timestamp":1747184138835,"version":"3.40.5"},"reference-count":11,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,3,13]],"date-time":"2020-03-13T00:00:00Z","timestamp":1584057600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Respiratory J"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>The cystic fibrosis (CF) clinical profile and associated <jats:italic>CFTR<\/jats:italic> mutation spectrum is poorly understood in the South Asian population. This is likely due to the lack of diagnostic resources and the absence of a centralised CF database and screening programme, despite a relatively large proportion of the global population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Following identification of a previously unreported <jats:italic>CFTR<\/jats:italic> mutation (c.2805_2810delinsTCAGA; p.(Pro936Ginfs*6)) in a newly diagnosed patient of Indian descent, we interrogated national registries for other cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified three European\u2010born subjects of South Asian descent with CF due to a novel <jats:italic>CFTR<\/jats:italic> mutation. All three subjects presented in infancy and each had a severe phenotype with intestinal complications as a presenting feature. Two subjects were diagnosed prior to the advent of universal screening. Preliminary genetic screening failed to identify the causative mutation in all three patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our work highlights the value of extended or targeted genotyping in selected populations. It also demonstrates the benefit of routine collaboration between national registries. This will promote the identification of novel mutations; leading to greater understanding of genotype\u2010phenotype associations, improved individual prognostication and ultimately the improved availability of novel precision therapies. This collaboration is essential if we are to achieve health equality for people with CF living in resource\u2010limited settings.<\/jats:p><\/jats:sec>","DOI":"10.1111\/crj.13163","type":"journal-article","created":{"date-parts":[[2020,2,11]],"date-time":"2020-02-11T13:14:27Z","timestamp":1581426867000},"page":"586-588","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Identification of a novel cystic fibrosis mutation in three patients of South Asian descent"],"prefix":"10.1111","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0840-3560","authenticated-orcid":false,"given":"Aisling","family":"Semple","sequence":"first","affiliation":[{"name":"Department of Paediatrics National University of Ireland Galway Ireland"},{"name":"Department of Paediatrics Galway University Hospital 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