Beyond the Local Basic Panel: Full CFTR Gene Analysis Identifies Novel CF Mutation Missed on Standard Testing in an Arabic Child.
cf diagnosis
cftr gene mutation
cystic fibrosis (cf)
pediatric
rare genetic mutation
Journal
Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737
Informations de publication
Date de publication:
Jan 2023
Jan 2023
Historique:
accepted:
30
12
2022
entrez:
6
2
2023
pubmed:
7
2
2023
medline:
7
2
2023
Statut:
epublish
Résumé
Cystic fibrosis (CF) is an autosomal recessive disease caused by different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It is the most common inherited disorder in the Caucasian population, with around 2000 mutations identified for the CFTR gene. The precise prevalence of CF in Arab countries remains unknown, with the prevalence of F508 del found to be a common type with other endemic mutations. We describe the case of a CF patient who was diagnosed at the age of seven years. She presented post-cardiac surgery for further evaluation for a recurrent chest infection and subtle dysmorphic features. CF genetic testing for the most common 31 mutations (CF panel) was negative, and a novel mutation was identified on CFTR gene sequencing.
Identifiants
pubmed: 36741604
doi: 10.7759/cureus.33337
pmc: PMC9896132
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e33337Informations de copyright
Copyright © 2023, Francis et al.
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
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