{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:05:42Z","timestamp":1760058342618,"version":"build-2065373602"},"reference-count":26,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2025,3,27]],"date-time":"2025-03-27T00:00:00Z","timestamp":1743033600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background\/Objective: Ichthyosis vulgaris (IV) is a genodermatosis caused by heterozygous, homozygous, or compound heterozygous variants in the filaggrin (FLG) gene on chromosome 1q21, which also predispose individuals to atopic dermatitis. Its incidence is 1 in 80\u2013250 children. The phenotypic characteristics include palmar hyperlinearity, keratosis pilaris, and a fine scale that is most prominent over the lower abdomen, arms, and legs. Our objective was to study the genetic variants in the FLG gene and their associations in patients with ichthyosis vulgaris. Material and methods: Here, 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 FLG gene were conducted. Results: We 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. Conclusions: This 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.<\/jats:p>","DOI":"10.3390\/genes16040380","type":"journal-article","created":{"date-parts":[[2025,3,28]],"date-time":"2025-03-28T04:36:48Z","timestamp":1743136608000},"page":"380","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel Filaggrin Variants Are Associated with Ichthyosis Vulgaris in Mexicans"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8065-0382","authenticated-orcid":false,"given":"Luz Mar\u00eda","family":"Gonz\u00e1lez-Huerta","sequence":"first","affiliation":[{"name":"Laboratory of Molecular Biology, Hospital General de M\u00e9xico \u201cEduardo Liceaga\u201d (HGMEL), M\u00e9xico City 06720, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-1992-7467","authenticated-orcid":false,"given":"Francisco Gabino","family":"Z\u00fa\u00f1iga-Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Hospital Regional de Alta Especialidad \u201cCiudad Salud\u201d, Tapachula 30830, Chiapas, Mexico"},{"name":"Department of Medical Genetics, Hospital General de M\u00e9xico \u201cEduardo Liceaga\u201d (HGMEL), M\u00e9xico City 06720, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-1292-1439","authenticated-orcid":false,"given":"Valeria Isabel","family":"Valerio-G\u00f3mez","sequence":"additional","affiliation":[{"name":"Department of Immunology and Allergy, Hospital General de M\u00e9xico \u201cEduardo Liceaga\u201d (HGMEL), M\u00e9xico City 06720, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5215-1906","authenticated-orcid":false,"given":"Andrea Aida","family":"Velasco-Medina","sequence":"additional","affiliation":[{"name":"Department of Immunology and Allergy, Hospital General de M\u00e9xico \u201cEduardo Liceaga\u201d (HGMEL), M\u00e9xico City 06720, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda","family":"del Refugio Rivera-Vega","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Hospital General de M\u00e9xico \u201cEduardo Liceaga\u201d (HGMEL), M\u00e9xico City 06720, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7511-4155","authenticated-orcid":false,"given":"Edgar","family":"Hern\u00e1ndez-Zamora","sequence":"additional","affiliation":[{"name":"Genomic Medicine, Instituto Nacional de Rehabilitaci\u00f3n Luis Guillermo Ibarra Ibarra (INR-LGII), Calzada M\u00e9xico-Xochimilco No. 289, Col. Arenal de Guadalupe, Alcald\u00eda Tlalpan, M\u00e9xico City 14389, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0324-7351","authenticated-orcid":false,"given":"Jaime","family":"Toral-L\u00f3pez","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Centro M\u00e9dico ISSEMYM Ecatepec, AV del Trabajo S\/N, Col. El Carmen, Ecatepec 55000, Estado de M\u00e9xico, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,3,27]]},"reference":[{"key":"ref_1","first-page":"213","article-title":"Hereditary ichthyosis: A diagnotic and therapeutic challenge","volume":"87","year":"2016","journal-title":"Rev. Chil. Pediatr."},{"key":"ref_2","first-page":"2","article-title":"Ichthyosis","volume":"19","author":"Sprecher","year":"2023","journal-title":"Nat. Rev. Dis. 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