Jornal de Pesquisa em Dermatologia Clínica e Experimental
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Filaggrin Mutations are Associated with Ichthyosis Vulgaris in the Southern Chinese Population

Chang-Xing Li, Quan Luo, Xue-Mei Li, Xi-Bao Zhang, Chun-Lei Han, Ze-Lin Ma and Dong-Zi Lin

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.