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Identification of a novel cystic fibrosis mutation in three patients of South Asian descent.
Semple, Aisling; Clark, Tara; Allen, Nicholas M; Krishnananthan, Thanuja; Nwokoro, Chinedu; Girodon, Emmanuelle; Porzio, Michele; Herzig, Mary.
Afiliación
  • Semple A; Department of Paediatrics, National University of Ireland Galway, Ireland.
  • Clark T; Department of Paediatrics, Galway University Hospital, Ireland.
  • Allen NM; Department of Genetics Counselling, Children's Health Ireland at Crumlin, Dublin 12, Ireland.
  • Krishnananthan T; Department of Paediatrics, National University of Ireland Galway, Ireland.
  • Nwokoro C; Department of Paediatrics, Galway University Hospital, Ireland.
  • Girodon E; Department of Paediatric Respiratory Medicine, Royal London Children's Hospital, London, UK.
  • Porzio M; Department of Paediatric Respiratory Medicine, Royal London Children's Hospital, London, UK.
  • Herzig M; Molecular Genetics Laboratory, Cochin Hospital, HUPC, APHP, Paris, France.
Clin Respir J ; 14(6): 586-588, 2020 Jun.
Article en En | MEDLINE | ID: mdl-32043836
INTRODUCTION: The cystic fibrosis (CF) clinical profile and associated CFTR 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. METHODS: Following identification of a previously unreported CFTR mutation (c.2805_2810delinsTCAGA; p.(Pro936Ginfs*6)) in a newly diagnosed patient of Indian descent, we interrogated national registries for other cases. RESULTS: We identified three European-born subjects of South Asian descent with CF due to a novel CFTR 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. CONCLUSION: 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-phenotype 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-limited settings.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Regulador de Conductancia de Transmembrana de Fibrosis Quística / Fibrosis Quística / Pueblo Asiatico Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Infant / Male Idioma: En Revista: Clin Respir J Año: 2020 Tipo del documento: Article País de afiliación: Irlanda Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Regulador de Conductancia de Transmembrana de Fibrosis Quística / Fibrosis Quística / Pueblo Asiatico Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Infant / Male Idioma: En Revista: Clin Respir J Año: 2020 Tipo del documento: Article País de afiliación: Irlanda Pais de publicación: Reino Unido