title: Two different PAX3 gene mutations causing Waardenburg syndrome type I.
abstract: Waardenburg syndrome (WS) is a form of autosomal dominant inherited deafness combined with specific congenital anomalies. WS types I and III are correlated with mutations in the PAX3 gene on chromosome 2q37. In this report we describe two mutations in the human PAX3 gene causing WS type I in two families. One mutation is an insertion in the paired box domain resulting in a protein termination within the paired box. The second mutation is a base pair substitution producing an arginine to cysteine amino acid change in the homeobox region.
authors.affiliation: Children's Hospital, University of Mainz, Germany.
authors.forename: G
authors.initials: G
authors.lastname: Wildhardt
authors.forename: A
authors.initials: A
authors.lastname: Winterpacht
authors.forename: K
authors.initials: K
authors.lastname: Hilbert
authors.forename: H
authors.initials: H
authors.lastname: Menger
authors.forename: B
authors.initials: B
authors.lastname: Zabel
mesh_terms: D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors; 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