Three Cases of Waardenburg Syndrome Type 2 in a Korean Family
Korean Journal of Ophthalmology
; : 185-189, 2004.
Article
em En
| WPRIM
| ID: wpr-31475
Biblioteca responsável:
WPRO
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.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Linhagem
/
Fatores de Transcrição
/
Síndrome de Waardenburg
/
Análise Mutacional de DNA
/
Proteínas de Ligação a DNA
/
Coreia (Geográfico)
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Child
/
Female
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Korean Journal of Ophthalmology
Ano de publicação:
2004
Tipo de documento:
Article