Ann Dermatol.  2011 May;23(2):170-176. 10.5021/ad.2011.23.2.170.

Genetic Polymorphism of FLG in Korean Ichthyosis Vulgaris Patients

• Kim EJ
• Jeong MS
• Li K
• Park MK
• Lee MK
• Yoon Y
• Cho DY
• Seo SJ

• KMID: 2156658
• DOI: http://doi.org/10.5021/ad.2011.23.2.170

Abstract

BACKGROUND
Filaggrin is a key protein that facilitates the formation of skin barrier by forming a stratum corneum. Mutations in the gene encoding filaggrin (FLG) have recently been reported in patients with ichthyosis vulgaris (IV). Interestingly, there are ethnic differences between FLG mutations identified in Asians and Europeans, and few FLG mutations are overlapping between Chinese and Japanese IV patients.
OBJECTIVE
The aim of this study was to investigative the genetic polymorphism of FLG in Korean IV patients.
METHODS
Genomic DNA was extracted from whole venous blood specimen of Korean patients with IV and a control group, and the full sequence of FLG was determined via overlapping long-range polymerase chain reaction method.
RESULTS
Analysis of base sequence previously unreported reveal new nonsense mutation p.Y1767X in a Korean IV patient, and additional new single nucleotide polymorphisms.
CONCLUSION
On the basis of this study, it is anticipated that analysis of FLG gene sequence be extended to other dermatoses associated with FLG, such as atopic dermatitis.

Keyword

Filaggrin; Genetics; Ichthyosis vulgaris; Mutation; Polymorphisms

MeSH Terms

Asian Continental Ancestry Group
Base Sequence
Codon, Nonsense
Dermatitis, Atopic
DNA
Humans
Ichthyosis
Ichthyosis Vulgaris
Intermediate Filament Proteins
Polymerase Chain Reaction
Polymorphism, Genetic
Skin
Skin Diseases
Codon, Nonsense
DNA
Intermediate Filament Proteins

Figure

• 

  Fig. 1 Detection of filaggrin (FLG) mutation, Y1767X. (A) Direct DNA sequencing of specific FLG polymerase chain reaction products. Normal control sequence from filaggrin repeat 5 in exon3, corresponding to codons 5299-5301. Upper panels show identification of the novel Y1767X (=c.5301C>G) heterozygous mutation of the family. (B) A pedigree of IV family, showing semidominant inheritance pattern. Filled symbols refer to the IV presentation. Hetero (*): heterozygous for Y1767X, Wt: wild type for Y1767X.

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