N1303K (c.3909C>G) Mutation and Splicing: Implication of Its c.[744-33GATT(6); 869+11C>T] Complex Allele in CFTR Exon 7 Aberrant Splicing
Joint Authors
Meégarbaneé, André
Farhat, Raëd
Puissesseau, Géraldine
El-Seedy, Ayman
Pasquet, Marie-Claude
Adolphe, Catherine
Corbani, Sandra
Kitzis, Alain
Ladeveze, Véronique
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-05-17
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
Cystic Fibrosis is the most common recessive autosomal rare disease found in Caucasians.
It is caused by mutations on the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) that encodes a protein located on the apical membrane of epithelial cells.
c.3909C>G (p.Asn1303Lys, old nomenclature: N1303K) is one of the most common worldwide mutations.
This mutation has been found at high frequencies in the Mediterranean countries with the highest frequency in the Lebanese population.
Therefore, on the genetic level, we conducted a complete CFTR gene screening on c.3909C>G Lebanese patients.
The complex allele c.[744-33GATT(6); 869+11C>T] was always associated with the c.3909C>G mutation in cis in the Lebanese population.
In cellulo splicing studies, realized by hybrid minigene constructs, revealed no impact of the c.3909C>G mutation on the splicing process, whereas the associated complex allele induces minor exon skipping.
American Psychological Association (APA)
Farhat, Raëd& Puissesseau, Géraldine& El-Seedy, Ayman& Pasquet, Marie-Claude& Adolphe, Catherine& Corbani, Sandra…[et al.]. 2015. N1303K (c.3909C>G) Mutation and Splicing: Implication of Its c.[744-33GATT(6); 869+11C>T] Complex Allele in CFTR Exon 7 Aberrant Splicing. BioMed Research International،Vol. 2015, no. 2015, pp.1-8.
https://search.emarefa.net/detail/BIM-1054331
Modern Language Association (MLA)
Farhat, Raëd…[et al.]. N1303K (c.3909C>G) Mutation and Splicing: Implication of Its c.[744-33GATT(6); 869+11C>T] Complex Allele in CFTR Exon 7 Aberrant Splicing. BioMed Research International No. 2015 (2015), pp.1-8.
https://search.emarefa.net/detail/BIM-1054331
American Medical Association (AMA)
Farhat, Raëd& Puissesseau, Géraldine& El-Seedy, Ayman& Pasquet, Marie-Claude& Adolphe, Catherine& Corbani, Sandra…[et al.]. N1303K (c.3909C>G) Mutation and Splicing: Implication of Its c.[744-33GATT(6); 869+11C>T] Complex Allele in CFTR Exon 7 Aberrant Splicing. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-8.
https://search.emarefa.net/detail/BIM-1054331
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1054331