First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis

We report two cases of Qatari children with cystic fibrosis (CF) from different families presenting the homozygous CFTR 1521_1523delCTT (p. Phe508del) mutation with classic CF phenotypes. This gene mutation is considered the second CF mutation identified in Qatar. Herein, we review the frequency and...

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Autores principales: AbdulWahab, Atqah, AlNaimi, Amal, Habra, Basel, Janahi, Ibrahim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: HBKU Press 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8314207/
https://www.ncbi.nlm.nih.gov/pubmed/34377682
http://dx.doi.org/10.5339/qmj.2021.24
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author AbdulWahab, Atqah
AlNaimi, Amal
Habra, Basel
Janahi, Ibrahim
author_facet AbdulWahab, Atqah
AlNaimi, Amal
Habra, Basel
Janahi, Ibrahim
author_sort AbdulWahab, Atqah
collection PubMed
description We report two cases of Qatari children with cystic fibrosis (CF) from different families presenting the homozygous CFTR 1521_1523delCTT (p. Phe508del) mutation with classic CF phenotypes. This gene mutation is considered the second CF mutation identified in Qatar. Herein, we review the frequency and distribution of this mutation in Arab countries.
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spelling pubmed-83142072021-08-09 First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis AbdulWahab, Atqah AlNaimi, Amal Habra, Basel Janahi, Ibrahim Qatar Med J Case Report We report two cases of Qatari children with cystic fibrosis (CF) from different families presenting the homozygous CFTR 1521_1523delCTT (p. Phe508del) mutation with classic CF phenotypes. This gene mutation is considered the second CF mutation identified in Qatar. Herein, we review the frequency and distribution of this mutation in Arab countries. HBKU Press 2021-07-26 /pmc/articles/PMC8314207/ /pubmed/34377682 http://dx.doi.org/10.5339/qmj.2021.24 Text en © 2021 AbdulWahab, AlNaimi, Habra, Janahi, licensee HBKU Press. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution license CC BY 4.0, which permits unrestricted use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
AbdulWahab, Atqah
AlNaimi, Amal
Habra, Basel
Janahi, Ibrahim
First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis
title First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis
title_full First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis
title_fullStr First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis
title_full_unstemmed First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis
title_short First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis
title_sort first report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delctt (p. phe508del) in two qatari patients with cystic fibrosis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8314207/
https://www.ncbi.nlm.nih.gov/pubmed/34377682
http://dx.doi.org/10.5339/qmj.2021.24
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