Alu‐mediated large deletion of the CDSN gene as a cause of peeling skin disease. (25th October 2013)

• Record Type: Journal Article
• Authors: Wada, T.; Matsuda, Y.; Muraoka, M.; Toma, T.; Takehara, K.; Fujimoto, M.; Yachie, A.
• Is Part Of: Clinical genetics. Volume 86:Number 4(2014:Oct.)
• Page Start: 383
• Page End: 386
• Publication Date: 2013-10-25
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12294
• Languages: English
• ISSNs: 0009-9163

Abstract

<abstract abstract-type="main" id="cge12294-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p id="cge12294-para-0001">Peeling skin disease (PSD) is an autosomal recessive skin disorder caused by mutations in <italic>CDSN</italic> 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 <italic>CDSN</italic> gene, which abrogates CDSN expression. Several genes including <italic>C6orf15</italic>, <italic>PSORS1C1</italic>, <italic>PSORS1C2</italic>, <italic>CCHCR1</italic>, and <italic>TCF19</italic> 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.</p> </abstract>