Papillon-Lefèvre syndrome: report of six patients and identification of a novel mutation.
Int J Dermatol
; 55(8): 898-902, 2016 Aug.
Article
en En
| MEDLINE
| ID: mdl-27062382
ABSTRACT
Papillon-Lefèvre syndrome is an autosomal recessive genodermatosis typically manifesting with the constellation of palmoplantar keratoderma and progressive early-onset periodontitis. The cutaneous phenotype can be strikingly psoriasiform, possibly posing a diagnostic challenge. This rare disorder is caused by loss-of-function mutations in the CTSC gene, which encodes cathepsin C. We report six patients with Papillon-Lefèvre syndrome from five consanguineous Turkish families, in whom genetic analysis of the CTSC gene revealed four recurrent mutations (c.415G>A; c.1015C>T; c.1019A>G; and c.103-105delCTG) and a novel missense mutation (c.117G>T) in the homozygous state.
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Enfermedad de Papillon-Lefevre
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Mutación Missense
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Catepsina C
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Tamización de Portadores Genéticos
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
País/Región como asunto:
Asia
Idioma:
En
Revista:
Int J Dermatol
Año:
2016
Tipo del documento:
Article