Three Cases of Waardenburg Syndrome Type 2 in a Korean Family

• 발행기관: 대한안과학회
• 저자명: Joong Hyuk Choi Sung-Kyun Moon Ki Hwang Lee Ho Min Lew Yoon-Hee Chang
• 간행물 정보: 『The Korean Journal of Ophthalmology』Vol.18 No.2, 185~189쪽, 전체 5쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2004.08.30

영문 초록

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.

목차

INTRODUCTION

CASE REPORTS

DISCUSSION

키워드

auditory-pigment syndrome dystopia canthorum iris heterochromia MITF PAX3 Waardenburg syndrome