A rare CFTR mutation associated with severe disease progression in a 10‐year‐old Hispanic patient

Cystic fibrosis is a life‐shortening multisystem genetic disease. While readily tested, few tests analyze rare gene mutations prevalent among ethnic minorities. This case of a Hispanic child with a rare CF‐causing c.233dupT mutation and severe disease emphasizes the need for broad CFTR mutation anal...

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Detalles Bibliográficos
Autores principales: Soe, Katherine, Gregoire‐Bottex, M. Myrtha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5290503/
https://www.ncbi.nlm.nih.gov/pubmed/28174639
http://dx.doi.org/10.1002/ccr3.764
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author Soe, Katherine
Gregoire‐Bottex, M. Myrtha
author_facet Soe, Katherine
Gregoire‐Bottex, M. Myrtha
author_sort Soe, Katherine
collection PubMed
description Cystic fibrosis is a life‐shortening multisystem genetic disease. While readily tested, few tests analyze rare gene mutations prevalent among ethnic minorities. This case of a Hispanic child with a rare CF‐causing c.233dupT mutation and severe disease emphasizes the need for broad CFTR mutation analyses and genotyping particularly in minority populations.
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spelling pubmed-52905032017-02-07 A rare CFTR mutation associated with severe disease progression in a 10‐year‐old Hispanic patient Soe, Katherine Gregoire‐Bottex, M. Myrtha Clin Case Rep Case Reports Cystic fibrosis is a life‐shortening multisystem genetic disease. While readily tested, few tests analyze rare gene mutations prevalent among ethnic minorities. This case of a Hispanic child with a rare CF‐causing c.233dupT mutation and severe disease emphasizes the need for broad CFTR mutation analyses and genotyping particularly in minority populations. John Wiley and Sons Inc. 2017-01-19 /pmc/articles/PMC5290503/ /pubmed/28174639 http://dx.doi.org/10.1002/ccr3.764 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Soe, Katherine
Gregoire‐Bottex, M. Myrtha
A rare CFTR mutation associated with severe disease progression in a 10‐year‐old Hispanic patient
title A rare CFTR mutation associated with severe disease progression in a 10‐year‐old Hispanic patient
title_full A rare CFTR mutation associated with severe disease progression in a 10‐year‐old Hispanic patient
title_fullStr A rare CFTR mutation associated with severe disease progression in a 10‐year‐old Hispanic patient
title_full_unstemmed A rare CFTR mutation associated with severe disease progression in a 10‐year‐old Hispanic patient
title_short A rare CFTR mutation associated with severe disease progression in a 10‐year‐old Hispanic patient
title_sort rare cftr mutation associated with severe disease progression in a 10‐year‐old hispanic patient
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5290503/
https://www.ncbi.nlm.nih.gov/pubmed/28174639
http://dx.doi.org/10.1002/ccr3.764
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