Junctional epidermolysis bullosa of late onset explained by mutations in COL17A1.
Br J Dermatol
; 164(6): 1280-4, 2011 Jun.
Article
en En
| MEDLINE
| ID: mdl-21466533
ABSTRACT
BACKGROUND:
Junctional epidermolysis bullosa of late onset (JEB-lo) is a rare disease characterized by blistering of primarily the hands and feet starting in childhood. The pathogenesis remains unclear.OBJECTIVES:
To clarify the pathogenesis of JEB-lo.METHODS:
Two patients with JEB-lo, a brother and a sister, were examined using electron microscopy (EM), immunofluorescence (IF) antigen mapping and molecular analysis.RESULTS:
We found subtle changes in IF antigen mapping and EM. The most remarkable changes were loss of the apical-lateral staining of monoclonal antibodies (mAbs) against type XVII collagen (Col17), and a broadened distribution of mAb staining against the ectodomain of Col17, laminin-332 and type VII collagen. Mutation analysis of COL17A1, encoding Col17, showed a compound heterozygosity for a novel mutation c.1992_1995delGGGT and the known mutation c.3908G>A in both patients. The deletion c.1992_1995delGGGT results in a premature termination codon and mRNA decay, leaving the patients functionally hemizygous for the missense mutation c.3908G>A (p.R1303Q) in the noncollagenous 4 domain of Col17.CONCLUSIONS:
JEB-lo is an autosomal recessive disorder caused by mutations in COL17A1, and subtle aberrations in EM and IF antigen mapping are clues to diagnosis.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Autoantígenos
/
Epidermólisis Ampollosa de la Unión
/
Colágenos no Fibrilares
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Mutación
Límite:
Adult
/
Female
/
Humans
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Male
Idioma:
En
Revista:
Br J Dermatol
Año:
2011
Tipo del documento:
Article
País de afiliación:
Países Bajos