González-Huerta Luz María, Zúñiga-Rodríguez Francisco Gabino, Valerio-Gómez Valeria Isabel, Velasco-Medina Andrea Aida, Del Refugio Rivera-Vega María, Hernández-Zamora Edgar, Toral-López Jaime
Laboratory of Molecular Biology, Hospital General de México "Eduardo Liceaga" (HGMEL), México City 06720, Mexico.
Department of Medical Genetics, Hospital Regional de Alta Especialidad "Ciudad Salud", Tapachula 30830, Chiapas, Mexico.
Genes (Basel). 2025 Mar 27;16(4):380. doi: 10.3390/genes16040380.
BACKGROUND/OBJECTIVE: Ichthyosis vulgaris (IV) is a genodermatosis caused by heterozygous, homozygous, or compound heterozygous variants in the filaggrin () gene on chromosome 1q21, which also predispose individuals to atopic dermatitis. Its incidence is 1 in 80-250 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 gene and their associations in patients with ichthyosis vulgaris.
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 gene were conducted.
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.
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.
背景/目的：寻常型鱼鳞病（IV）是一种遗传性皮肤病，由位于1q21染色体上的丝聚合蛋白（FLG）基因的杂合、纯合或复合杂合变异引起，这些变异也使个体易患特应性皮炎。其发病率为每80 - 250名儿童中有1例。表型特征包括掌纹明显、毛发角化病以及在下腹部、手臂和腿部最为明显的细鳞屑。我们的目的是研究FLG基因中的遗传变异及其在寻常型鱼鳞病患者中的关联。
在此，我们研究了18例墨西哥散发型寻常型鱼鳞病病例和4名家族成员。进行了类固醇硫酸酯酶（STS）酶活性检测、聚合酶链反应（PCR）以及FLG基因的直接测序。
我们在15例散发型病例中发现了复发性杂合变异R501*，而其他3例散发型病例显示出4种新的变异（p.Q2123R、p.H2118R、p.D2120E、p.S3970L）和1种已报道的变异（p.Y2119H）；家族1和家族2的成员呈现出新的纯合和杂合变异（p.S1482Y、p.P2144S）。
本研究增加了寻常型鱼鳞病患者新的致病变异，并表明墨西哥人群中的截短突变（p.R501*）最为常见。
