@article{oai:kanazawa-u.repo.nii.ac.jp:00026735,
 author = {Wada, Taizo and Matsuda, Yusuke and Muraoka, Masahiro and Toma, Tomoko and Takehara, Kazuhiko and Fujimoto, Manabu and Yachie, Akihiro},
 issue = {xx},
 journal = {Clinical Genetics},
 month = {Jan},
 note = {Peeling skin disease (PSD) is an autosomal recessive skin disorder caused by mutations in CDSN and is characterized by superficial peeling of the upper epidermis. Corneodesmosin (CDSN) is a major component of corneodesmosomes that plays an important role in maintaining epidermis integrity. Herein, we report a patient with PSD caused by a novel homozygous large deletion in the 6p21.3 region encompassing the CDSN gene, which abrogates CDSN expression. Several genes including C6orf15, PSORS1C1, PSORS1C2, CCHCR1, and TCF19 were also deleted, however, the patient showed only clinical features typical of PSD. The deletion size was 59.1kb. Analysis of the sequence surrounding the breakpoint showed that both telomeric and centromeric breakpoints existed within Alu-S sequences that were oriented in opposite directions. These results suggest an Alu-mediated recombination event as the mechanism underlying the deletion in our patient. © 2013 John Wiley & Sons A/S., In Press / 発行後1年より最終稿},
 pages = {xxxx--xxxx},
 title = {Alu-mediated large deletion of the CDSN gene as a cause of peeling skin disease},
 volume = {xx},
 year = {2014}
}