Filaggrin gene mutations with special reference to atopic dermatitis.

Purpose of review: Mutations in the Filaggrin gene can cause absent or reduced filaggrin protein, leading to impaired keratinization and skin barrier defect, which produce characteristic phenotypes. In this short review, we report current evidence on the topic with special reference to atopic dermatitis, suggest future directions, and discuss therapeutic implications.

Recent findings: Numerous candidate gene association studies, genome-wide association studies, studies on copy number variations and most recently, sequencing studies, have confirmed the robust association of mutations in the Filaggrin gene with atopic dermatitis, and have also linked these mutations with several other disorders.

Summary: Filaggrin gene defects remain the strongest identified genetic risk factors for atopic dermatitis. Taken in conjunction with other genes found to be associated with this condition, genetic screening and identification of individuals at risk for atopic dermatitis could lead to personalized therapy. Manipulation of genetic regulatory elements to increase the amount of filaggrin protein in deficient individuals is an attractive treatment option for the future.