Three Cases of Waardenburg Syndrome Type 2 in a Korean Family
Korean Journal of Ophthalmology
;
: 185-189, 2004.
Artículo
en Inglés
| WPRIM
| ID: wpr-31475
ABSTRACT
Waardenburg syndrome (WS) is a rare, autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary disturbances of the skin, hair, and iris, and other developmental defects such as lateral displacement of both medial canthi and lacrimal puncta called dystopia canthorum. While mutations of the PAX3 (paired box) gene have been identified in about 99% of WS type 1 cases, WS type 2 is a heterogeneous group, with about 15% of cases caused by mutations in microphthalmia associated transcription factor (MITF). We have experienced three cases of typical WS type 2 in a Korean family, for whom full ocular examination and genetic studies were performed. The genetic studies revealed no mutation in either PAX3 or MITF genes. The genetic basis, as yet unknown for most cases of WS type 2, might be found with further investigation.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Factores de Transcripción
/
Síndrome de Waardenburg
/
Análisis Mutacional de ADN
/
Proteínas de Unión al ADN
/
Corea (Geográfico)
/
Mutación
Tipo de estudio:
Estudio pronóstico
Límite:
Niño
/
Femenino
/
Humanos
/
Masculino
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Korean Journal of Ophthalmology
Año:
2004
Tipo del documento:
Artículo
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