Missense, silent, non-sense and frame-shift mutations in exon 3 of the filaggrin gene in patients with bronchial asthma, atopic dermatitis, allergic rhinitis and mixed atopy.
Ragaa H SalamaZafar RasheedAhmed A AhmedGhada A Bin SaifMaha M ElkholyAlaa E Abd El-MoniemTarek SalemKhaled ZedanAhmad A Al RobaeeAbdullateef A AlzolibaniPublished in: Nucleosides, nucleotides & nucleic acids (2021)
This study investigated the atopic march on the basis of genetics. This research detected 227 variants in the filaggrin gene (FLG gene). Missense, silent, non-sense, frame-shift and non-coding mutations were detected in exon 3 of the FLG gene in patients with bronchial asthma, atopic dermatitis, allergic rhinitis and mixed atopy. Missense mutation was detected at c.8343 G > C (p. Asp2781Glu) in all adult asthmatic and allergic rhinitis patients. Whereas, mutation at c.8360 C > T/A (p. Arg2787 His/Leu) was detected in all childhood asthmatic and mixed atopic patients. A non-coding mutation was detected at c.12365 in atopic dermatitis and bronchial asthma patients. Furthermore, DNA sequencing of asthmatic and mixed atopic patients showed missense mutations at c.6073 C > T (p. Gly2025Glu) and a silent mutation at c. 8341 G > A (p. Asp2781Asp).
Keyphrases
- allergic rhinitis
- atopic dermatitis
- end stage renal disease
- newly diagnosed
- ejection fraction
- lung function
- prognostic factors
- chronic obstructive pulmonary disease
- peritoneal dialysis
- copy number
- genome wide
- patient reported outcomes
- intellectual disability
- cystic fibrosis
- gene expression
- autism spectrum disorder
- transcription factor
- genome wide analysis
- nucleic acid