title: A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg Syndrome type 2.
abstract: Waardenburg Syndrome (WS) is an autosomal-dominant disorder phenotypically characterized by sensorineural hearing loss and pigmentary disturbances. Presence of dystopia canthorum is indicative of WS type 1 and results from defects in the PAX3 gene, whereas normally located medial canthi is characteristic of type 2 WS (WS2) and is associated with defects in the microphthalmia-associated transcription factor (MIFT) gene. Here a neutral polymorphism is reported in the PAX3 gene (T315K) in a family with WS2.
authors.affiliation: Laboratory of Molecular Otology, Epstein Laboratories, Department of Otolaryngology - Head & Neck Surgery, University of California San Francisco, CA, USA.
authors.forename: C
authors.initials: C
authors.lastname: Wang
authors.forename: E
authors.initials: E
authors.lastname: Kim
authors.forename: A
authors.initials: A
authors.lastname: Attaie
authors.forename: T N
authors.initials: TN
authors.lastname: Smith
authors.forename: E R
authors.initials: ER
authors.lastname: Wilcox
authors.forename: A K
authors.initials: AK
authors.lastname: Lalwani
mesh_terms: D001483:Base Sequence; D002140:California; D004268:DNA-Binding Proteins / Q000235:genetics*; D005190:Family; D006801:Humans; D007194:India / Q000208:ethnology; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D014157:Transcription Factors; D014849:Waardenburg Syndrome / Q000145:classification / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors; D014157:Transcription Factors; C068686:Pax3 protein, mouse