Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants

• Main Authors: Wong, Colin C. X. F., Denil, Simon L. I. J., McLean, W. H. Irwin, Smith, Frances J. D., Common, John E. A., Tang, Mark B. Y., Foo, Jia Nee, Chen, Huijia, Tay, Angeline Su Ling, Haines, Rebecca L., Sandilands, Aileen, Lane, E. Birgitte, Liu, Jianjun
• Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
• Format: Article
• Language: English
• Published: 2019
• Subjects: Filaggrin Gene; Disease-associated Variants; Science::Medicine
• Online Access: https://hdl.handle.net/10356/84165; http://hdl.handle.net/10220/49132
• Institution: Nanyang Technological University

The filaggrin gene (FLG) is essential for skin differentiation and epidermal barrier formation. FLG loss-of-function (LoF) variants are associated with ichthyosis vulgaris and the major genetic risk factor for developing atopic dermatitis (AD).1, 2, 3 Genetic stratification of patients with AD accor...