|(C;C)||0||common in clinvar|
|Disease||Ichthyosis vulgaris Dermatitis|
|CLNDBN||Ichthyosis vulgaris Dermatitis, atopic, 2, susceptibility to|
|CLNSRC||OMIM Allelic Variant|
[PMID 17291859] Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis
In affected members of 2 unrelated Japanese families with ichthyosis vulgaris who were negative for previously identified null mutations in the FLG gene, heterozygosity for a 7661C-G transversion in exon 3 of the FLG gene was identified, resulting in a Ser2554-to-ter (S2554X) substitution, predicted to cause premature termination of profilaggrin translation in the filaggrin repeat domain 7. One indiviual who had a severe presentation of the disease, was found to be homozygous for S2554X. 143 Japanese patients with atopic dermatitis from 140 unrelated families were screened for this null mutation with S2554X identified in 6 patients. The mutation was not found in 156 unrelated nonatopic and nonichthyotic Japanese controls.