title: Three cases of Waardenburg syndrome type 2 in a Korean family.
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.
authors.affiliation: Department of Ophthalmology, Ajou University, School of Medicine, Suwon, Korea.
authors.forename: Joong Hyuk
authors.initials: JH
authors.lastname: Choi
authors.forename: Sung-Kyun
authors.initials: SK
authors.lastname: Moon
authors.forename: Ki Hwang
authors.initials: KH
authors.lastname: Lee
authors.forename: Ho Min
authors.initials: HM
authors.lastname: Lew
authors.forename: Yoon-Hee
authors.initials: YH
authors.lastname: Chang
mesh_terms: D002648:Child; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D006801:Humans; D007723:Korea; D008297:Male; D051739:Microphthalmia-Associated Transcription Factor; D008875:Middle Aged; D009154:Mutation; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors; D010375:Pedigree; D014157:Transcription Factors / Q000235:genetics; D014849:Waardenburg Syndrome / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C497234:MITF protein, human; D051739:Microphthalmia-Associated Transcription Factor; D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors; D014157:Transcription Factors