Abstract:
: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 59.1 kb. 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.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Wada T,Matsuda Y,Muraoka M,Toma T,Takehara K,Fujimoto M,Yachie Adoi
10.1111/cge.12294subject
Has Abstractpub_date
2014-10-01 00:00:00pages
383-6issue
4eissn
0009-9163issn
1399-0004journal_volume
86pub_type
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