Alu-mediated large deletion of the CDSN gene as a cause of peeling skin disease.
Clin Genet
; 86(4): 383-6, 2014 Oct.
Article
em En
| MEDLINE
| ID: mdl-24116970
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Dermatopatias Genéticas
/
Glicoproteínas
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Dermatite Esfoliativa
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Elementos Alu
Limite:
Female
/
Humans
/
Newborn
Idioma:
En
Revista:
Clin Genet
Ano de publicação:
2014
Tipo de documento:
Article
País de afiliação:
Japão