1.
Clin Exp Dermatol
; 34(2): 224-8, 2009 Mar.
Artículo
en Inglés
| MEDLINE
| ID: mdl-19018793
RESUMEN
BACKGROUND: Striate palmoplantar keratoderma (SPPK) has been shown to be caused by mutations in at least three genes: DSG1, DSP and KRT1. METHODS: Three families with nine affected members were assessed using a candidate gene-based screening approach. RESULTS: In all three families, new heterozygous mutations were found in DSG1. CONCLUSION: Direct sequencing of cDNA derived from affected skin in one patient failed to reveal a pathogenic mutation, suggesting that SPPK results from haploinsufficiency for DSG1.
Asunto(s)
Desmogleína 1/genética , Desmoplaquinas/genética , Queratina-1/genética , Queratodermia Palmoplantar/genética , Proliferación Celular , Análisis Mutacional de ADN , Familia/etnología , Femenino , Predisposición Genética a la Enfermedad/genética , Heterocigoto , Humanos , Queratodermia Palmoplantar/patología , Masculino , Mutación/genética , Linaje , Reacción en Cadena de la Polimerasa
2.
Br J Dermatol
; 156(3): 572-4, 2007 Mar.
Artículo
en Inglés
| MEDLINE
| ID: mdl-17300252