A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease.
J Invest Dermatol
; 127(2): 298-300, 2007 Feb.
Article
en En
| MEDLINE
| ID: mdl-16917491
ABSTRACT
Dowling-Degos disease (DDD) is an autosomal-dominant genodermatosis characterized by reticulate pigmentation of the flexures. By direct DNA sequencing, we have identified a frameshift mutation in exon 1 of KRT5 in the proband from an extended Spanish DDD kindred. Cloning of PCR products confirmed that this was a 2-bp deletion mutation, designated c.442delAG, leading to a premature termination codon in the V1 domain of the K5 polypeptide, designated p.S148fsX30. These data confirm that haploinsufficiency for K5 causes DDD and points to a prominent role for the keratin intermediate filament cytoskeleton within basal keratinocytes in epidermal pigment biology.
Buscar en Google
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Mutación del Sistema de Lectura
/
Hiperpigmentación
/
Queratina-5
/
Heterocigoto
Tipo de estudio:
Prognostic_studies
Límite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
J Invest Dermatol
Año:
2007
Tipo del documento:
Article
País de afiliación:
Reino Unido