title: A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WS1).
abstract: Waardenburg syndrome, an autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary disturbances and other developmental defects, is the most frequent form of congenital deafness in humans. Mutations in the PAX3 gene, a transcription factor expressed during embryonic development, is associated with WS types I and III. Here we report the identification of a novel acceptor splice site mutation (86-2 A-->G) in the paired domain of the human PAX3 gene causing WS type I in a three generation family.
authors.affiliation: Epstein Laboratories, Department of Otolaryngology-Head & Neck Surgery, University of California, San Francisco 94143, USA.
authors.forename: A
authors.initials: A
authors.lastname: Attaie
authors.forename: E
authors.initials: E
authors.lastname: Kim
authors.forename: E R
authors.initials: ER
authors.lastname: Wilcox
authors.forename: A K
authors.initials: AK
authors.lastname: Lalwani
mesh_terms: D017398:Alternative Splicing; D004247:DNA / Q000032:analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007438:Introns; D008297:Male; D009154:Mutation; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D014157:Transcription Factors; D014849:Waardenburg Syndrome / 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; D004247:DNA