Filaggrin Mutations are Associated with Ichthyosis Vulgaris in the Southern Chinese Population

Chang-Xing Li,Chun-Lei Han,Xue-Mei Li,Xi-Bao Zhang,Quan Luo

doi:10.4172/2155-9554.1000102

Abstract

Filaggrin (FLG) plays an important role in the epidermal barrier function, which identified in patients with ichthyosis vulgaris(IV).To study the genetics of FLG mutations in Southern Chinese patients with IV. We evaluated the influence of five mutations (3321 delA, 441delA, 1249 insG, E1795X and S3296X) in a cohort of 65 IV Chinese patients and in 100 control individuals using the Sequenom® MassARRAY® system. The null allele frequency of 3321delA was 52.31%(34/65). FLG mutation 441delA was only found in one IV patients. FLG mutations 1249insG, E1795X and S3296X were not found in these patients. These findings show that the mutation 3321delA represent the most frequent genetic cause in Southern Chinese IV patients. Our findings confirm and extend the knowledge of the influence of FLG mutations in IV.

Highlights

ichthyosis vulgaris (IV) (OMIM 146700) is the most common ichthyosis with an estimated prevalence of 1:250–1000, and is inherited in a semidominant pattern [1]
These findings show that the mutation 3321delA represent the most frequent genetic cause in Southern Chinese IV patients
FLG mutation 441delA was only found in one IV patients

Summary

Introduction

IV (OMIM 146700) is the most common ichthyosis with an estimated prevalence of 1:250–1000, and is inherited in a semidominant pattern [1]. There is a decrease or absence of profilaggrin, a major component of keratohyalin granules [3,4]. Mutations in the FLG have been shown to be a major risk factor for IV and atopic dermatitis (AD) [5,6].The association of FLG mutations with IV in Northern European, Japanese, Bangladeshi, Korean, Taiwanese and Singaporean Chinese populations and has been confirmed in subsequent studies [7,8,9,10,11,12,13,14,15,16,17]. We identified five FLG mutations 3321delA, 441delA, 1249 insG, E1795X and S3296X in Southern Chinese IV patients. Filaggrin (FLG) plays an important role in the epidermal barrier function, which identified in patients with ichthyosis vulgaris (IV)

Methods

Results

Conclusion