학술논문
KLK11 ichthyosis: large truncal hyperkeratotic pigmented plaques underscore a distinct autosomal dominant disorder of cornification.
Document Type
Article
Author
Source
Subject
*ICHTHYOSIS
*JAPANESE people
*GENETIC variation
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Language
ISSN
0007-0963
Abstract
Variants in KLK11, affecting signal peptide cleavage of kallikrein-related peptidase 11, cause an autosomal-dominant cornification disorder. Https://doi.org/10.1093/bjd/ljad082 Dear Editor, Recently, Gong I et al i . reported a monogenic human skin disorder caused by pathogenic variants in the kallikrein ( I KLK i ) gene family.[1] They identified two substitutions, p.(Gly50Glu) and p.(Gly50Arg), located within the last amino acid of the estimated signal peptide in kallikrein-11 (KLK11) in three separate ichthyosiform erythroderma or erythrokeratoderma pedigrees.[1] A number of KLKs have been identified in normal stratum corneum and sweat, and are candidate desquamation-related proteases.[2] KLK11, encoded by I KLK11 i , belongs to the kallikrein-related peptidase family associated with skin desquamation by degrading corneodesmosomes, which is essential for stratum corneum exfoliation. [Extracted from the article]