Ontology highlight
ABSTRACT:
SUBMITTER: Duchatelet S
PROVIDER: S-EPMC6586468 | biostudies-literature | 2019 Feb
REPOSITORIES: biostudies-literature
Duchatelet Sabine S Boyden Lynn M LM Ishida-Yamamoto Akemi A Zhou Jing J Guibbal Laure L Hu Ronghua R Lim Young H YH Bole-Feysot Christine C Nitschké Patrick P Santos-Simarro Fernando F de Lucas Raul R Milstone Leonard M LM Gildenstern Vanessa V Helfrich Yolanda R YR Attardi Laura D LD Lifton Richard P RP Choate Keith A KA Hovnanian Alain A
The Journal of investigative dermatology 20181012 2
Investigation of genetic determinants of Mendelian skin disorders has substantially advanced understanding of epidermal biology. Here we show that mutations in PERP, encoding a crucial component of desmosomes, cause both dominant and recessive human keratoderma. Heterozygosity for a C-terminal truncation, which produces a protein that appears to be unstably incorporated into desmosomes, causes Olmsted syndrome with severe periorificial and palmoplantar keratoderma in multiple unrelated kindreds. ...[more]