Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation.
Acta Derm Venereol
; 84(2): 124-31, 2004.
Article
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| MEDLINE
| ID: mdl-15206692
ABSTRACT
Plectin is one of the largest and most versatile cytolinker proteins known. Cloned and sequenced in 1991, it was later shown to have nonsense mutations in recessive epidermolysis bullosa with muscular dystrophy. A dominant mutation in the gene was found to cause epidermolysis bullosa simplex Ogna without muscular dystrophy. Here we report the DNA sequencing of the plectin gene (PLEC1) in a Dutch family originally described in 1972 as having epidermolysis bullosa with muscular dystrophy. The results revealed homozygosity for a new plectin nonsense mutation at position 13187 and its specific 8q24 marker haplotype profile. Western blotting of cultured fibroblasts and immunofluorescence microscopy of skin biopsy confirm that the plectin protein expression is grossly reduced or absent. A summary of the life-long clinical course of the two affected brothers homozygous for the new E1914X mutation is given.
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Colección:
01-internacional
Asunto principal:
Epidermólisis Ampollosa Simple
/
Mutación Puntual
/
Predisposición Genética a la Enfermedad
/
Genes Dominantes
/
Proteínas de Filamentos Intermediarios
/
Distrofias Musculares
Límite:
Humans
/
Male
País/Región como asunto:
Europa
Idioma:
En
Revista:
Acta Derm Venereol
Año:
2004
Tipo del documento:
Article
País de afiliación:
Noruega