ArticleGenes2025
Novel Filaggrin Variants Are Associated with Ichthyosis Vulgaris in Mexicans.
Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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7 authors.
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Abstract
BACKGROUND/
objectiveIchthyosis vulgaris (IV) is a genodermatosis caused by heterozygous, homozygous, or compound heterozygous variants in the filaggrin ( MATERIAL AND
methodsHere, we studied eighteen Mexican sporadic cases and four family members with IV. Steroid sulfatase (STS) enzymatic activity, polymerase chain reaction (PCR), and direct sequencing on the
resultsWe found the recurrent heterozygous variant R501* in fifteen sporadic cases, while the other three sporadic cases showed four novel (p.Q2123R, p.H2118R, p.D2120E, p.S3970L) variants and one reported (p.Y2119H) variant; members of family 1 and 2 presented novel homozygous and heterozygous (p.S1482Y, p.P2144S) variants.
conclusionsThis study added to the novel pathogenic variants in patients with IV and showed that the stop mutations (p.R501*) in the Mexican population are the most prevalent.
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