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

Abstract

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).

Keywords:

• Mutations
• filaggrin
• asthma
• allergic rhinitis
• atopic dermatitis
• atopic march

Authors' contributions

RHS, ZR, AAAZ performed analysis and data interpret and drafting of manuscript; MME, AEA performed the diagnosis of adult atopic patients and sample collection; RHS, ZR, GABin, AAAR performed critical revision of the manuscript; KZ performed the diagnosis of pediatric atopic patients and collection of samples. TS, AAA performed experimentation and data collection.

Consent for publication

All authors support this publication.

Data are available

The datasets used in this study are available and should be presented by the corresponding author on a reasonable request.

Declaration of interest

None.

Ethics approval and consent to participate

Ethical approval of this study was taken Qassim University Ethical Committee and written informed consent was also taken from all studied subjects.

Additional information

Funding

This work was supported by the grant from National Plan for Science, Technology and Innovation of KSA (NSTIP # 11-BIO1459-09).