Identification of filaggrin gene mutations in a family with ichthyosis vulgaris

Objective To detect possible filaggrin(FLG) gene mutations in a family with ichthyosis vulgaris(IV).Methods Genomic DNA was extracted from the peripheral blood of a family with IV,and 100 normal non-kinship people as the control group.13 FLG mutation points(3321delA,1249insG,441delA,S3296X,E1795X,R501X,R2447X,2282del4,S2889X,3702delG,7945delA,R4307X,2417X) were detected by PCR and DNA sequencing.Results FLG mutation(3321delA) was detected in two of the 4 members of the family's second generation,not in unaffected members in the family and the control group.Conclusion Our findings suggest that FLG(3321delA) may result in the alteration of the structure and function of the FLG.