Novel FLG null mutations in Korean patients with atopic dermatitis and comparison of the mutational spectra in Asian populations
Abstract
Filaggrin is essential for the development of the skin barrier. Mutations in the gene encoding filaggrin have been identified as major predisposing factors for atopic disorders. Molecular analysis of the FLG gene in this study showed nine null and one unclassified mutation in 13 of 81 Korean patients with atopic dermatitis (AD): five novel null mutations (i.e. p.S1405*, c.5671_5672delins TA, p.W1947*, p.G2025* and p.E3070*); four reported null mutations (i.e. c.3321delA, p.S1515*, p.S3296* and p.K4022*); and one unclassified mutation (i.e. c.306del AAAGCACAG). These variants are nonsense, premature termination codon or in‐frame deletion expected to cause loss‐of‐function of FLG. Genotype–phenotype correlation is not obvious in Korean AD patients with FLG null mutations. According to a review of the mutational spectra of the FLG gene in the Asian populations, FLG null mutations appeared to be unique in each population but some mutations such as p.R501*, c.3321delA, p.S1515*, p.S3296* and p.K4022* were commonly found in at least two of the selected Asian populations including Korean, Japanese, Chinese, Singaporean Chinese or Taiwanese. Further investigations on a larger group of Korean AD would be necessary to elucidate its clinical pathogenesis and mutational spectrum related to specific FLG null mutations for AD.
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Loss-of-function mutation of the FLG gene is associated with the development of atopic dermatitis.
“loss-of-function mutation of the FLG gene is associated with the development of atopic dermatitis [10,11]”
From Antioxidant Artemisia princeps Extract Enhances the Expression of Filaggrin and Loricrin via the AHR/OVOL1 Pathway (2017) · cites this paper as [11]
Perturbed barrier function is critical for the development of atopic dermatitis and other allergic disorders, namely atopic march.
“Perturbed barrier function is critical for the development of not only atopic dermatitis but also other allergic disorders, namely, atopic march [8,9,10,11].”
From Antioxidant Artemisia princeps Extract Enhances the Expression of Filaggrin and Loricrin via the AHR/OVOL1 Pathway (2017) · cites this paper as [11]
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- Authors
- Park, J., Jekarl, D. W., Kim, Y., Kim, J., Kim, M., & Park, Y. M.
- Affiliations
- Catholic University of Korea (KR)
- Corresponding author
- Kim, Myungshin
- Park, Young Min
- Venue
- The Journal of Dermatology
- Publisher
- Wiley
- Published
- 2015-05-21
- Volume
- 42
- Issue
- 9
- Pages
- 867-873
- ISSN
- 0385-2407 (ISSN-L)
- 1346-8138
- OpenAlex
- W1485278347
- Cited by
- 50
- References
- 46
- Citations by year
- 2026: 2 · 2025: 7 · 2024: 4 · 2023: 6 · 2022: 4 · 2021: 7 · 2020: 4 · 2019: 1 · 2018: 4 · 2017: 10 · 2016: 1
- FWCI
- 5.58
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Dermatology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Korean Health Technology R&D Project, Ministry for Health & Welfare, Republic of Korea (HI14C3417)
- Topics
- Health Sciences › Medicine › Dermatology › Dermatology and Skin Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Skin and Cellular Biology Research
- Keywords
- atopic dermatitis, filaggrin, FLG gene, null mutations, novel mutations, mutation spectrum, Korean patients, Asian populations, genotype-phenotype correlation, skin barrier, loss-of-function mutations
- MeSH terms
- Filaggrin Proteins, Adolescent, Adult, Child, Child, Preschool, Dermatitis, Atopic, DNA Mutational Analysis, Female, Humans, Intermediate Filament Proteins, Male, Asian People, Young Adult
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