Potential digenic inheritance of <i>SERPINB7</i> and <i>SERPINA12</i> variants in Chinese patients with Nagashima-type palmoplantar keratosis
Yihe Liu, Juan Liu, Yuqi Chen, Ran Mo, Ruiyu Xiang, Zhongya Song, Yong Yang, Zhiming Chen
Abstract
Nagashima-type palmoplantar keratosis, caused by biallelic loss-of-function variants in SERPINB7, is the most prevalent palmoplantar keratoderma in East Asia and manifests as diffuse palmoplantar erythema and hyperkeratosis. We report four different variants of SERPINA12 in six Chinese individuals and identified the recurrent variant c.970_971del as a founder variant among East Asians.
Topics & Concepts
Palmoplantar keratodermaDermatologyHyperkeratosisPalmoplantar pustulosisKeratodermaLoss functionMedicineKeratosisGeneticsBiologyGenePhenotypePsoriasisSkin and Cellular Biology ResearchSkin Protection and Agingmelanin and skin pigmentation