Identification of a recurrent mutation in the human hairless gene underlying atrichia with papular lesions.
Clin Exp Dermatol
; 30(4): 363-5, 2005 Jul.
Article
en En
| MEDLINE
| ID: mdl-15953070
ABSTRACT
Identification of mutations in the hairless (HR) gene in patients with atrichia with papular lesions (APL) has proven of critical importance, as it provides a basis for the differentiation between APL and alopecia universalis. The establishment of the diagnostic criteria for APL has triggered the identification of a large number of APL patients among those suspected to suffer from alopecia universalis. This advancement has resulted in the discovery of an increasing number of hairless mutations in both consanguineous and nonconsanguineous APL families. Here, we report the identification of a homozygous mutation, 3434delC, in an APL patient of Arab-Palestinian descent. The proband is a 23-year-old female with generalized scalp and body alopecia. To confirm the diagnosis of APL and to identify the specific mutation, we sequenced the hairless gene. Sequencing of all exons of the hairless gene revealed a homozygous frameshift mutation, 3434delC, in exon 18. Interestingly, the same mutation was previously identified in an Arab-Israeli family. Our data suggest that the 3434delC mutation most likely represents a founder mutation in this geographical region.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedades Cutáneas Genéticas
/
Factores de Transcripción
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Mutación del Sistema de Lectura
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Enfermedades Cutáneas Papuloescamosas
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Alopecia
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adult
/
Female
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Humans
Idioma:
En
Revista:
Clin Exp Dermatol
Año:
2005
Tipo del documento:
Article
País de afiliación:
Estados Unidos