First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis.
Qatar
cystic fibrosis
p. Phe508del mutation
Journal
Qatar medical journal
ISSN: 0253-8253
Titre abrégé: Qatar Med J
Pays: Qatar
ID NLM: 8101648
Informations de publication
Date de publication:
2021
2021
Historique:
received:
26
09
2020
accepted:
07
03
2021
entrez:
11
8
2021
pubmed:
12
8
2021
medline:
12
8
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 34377682
doi: 10.5339/qmj.2021.24
pii: qmj.2021.24
pmc: PMC8314207
doi:
Types de publication
Case Reports
Langues
eng
Pagination
24Informations de copyright
© 2021 AbdulWahab, AlNaimi, Habra, Janahi, licensee HBKU Press.
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