alexa Filaggrin Mutations are Associated with Ichthyosis Vulg
ISSN: 2155-9554

Journal of Clinical & Experimental Dermatology Research
Open Access

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Research Article

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

Chang-Xing Li1, Quan Luo2, Xue-Mei Li2, Xi-Bao Zhang2,* Chun-Lei Han1, Ze-Lin Ma1 and Dong-Zi Lin1

1Department of Dermatology, Dongguan Institute of Dermatology, NO. 216 Dongcheng West Road, Dongguan Guangdong, 523008, PR of China

2Department of Dermatology,1, NO. 56 Hengfu Road, Guangzhou 510095, PR of China

*Corresponding Author:
Xi-Bao Zhang
Department of Dermatology
Guangzhou Institute of Dermatology
Guangzhou 510095, PR of China
Tel: 00 86 20 83592507
Fax: 008620 83587058
E-mail: [email protected]

Accepted date: September 28, 2010; Published date: September 30, 2010

Citation: C Li, Luo Q, Li XM, Zhang XB, Han CL, et al. (2010) Filaggrin Mutations are Associated with Ichthyosis Vulgaris in the Southern Chinese Population. J Clin Exp Dermatol 1:102. doi: 10.4172/2155-9554.1000102

Copyright: © 2010 C Li, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.



Background: Filaggrin (FLG) plays an important role in the epidermal barrier function, which identi fi ed in patients with ichthyosis vulgaris (IV).

Objective: To study the genetics of FLG mutations in Southern Chinese patients with IV.

Methods: We evaluated the in fl uence of fi ve 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.

Results: 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.

Conclusions: These fi ndings show that the mutation 3321delA represent the most frequent genetic cause in Southern Chinese IV patients. Our fi ndings con fi rm and extend the knowledge of the in fl uence of FLG mutations in IV.


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