title: A novel mutation in the MITF gene causes Waardenburg syndrome type 2.
abstract: Mutations in the MITF gene on human chromosome 3 have been reported in families with Waardenburg Syndrome Type 2 (WS2), an autosomal dominant disorder responsible for a large proportion of congenital hearing loss. We examined 16 families with WS2 for mutations in the MITF gene. In one four-generation family, we found a novel two-base deletion in exon 6 of the MITF gene at nucleotide position 699. This mutation introduces a frame-shift and stop codon which leads to a truncation of the protein. This mutation is predicted to have phenotypic consequences not withstanding evidence of reduced penetrance and heterogeneity within the family studied.
authors.affiliation: Center for Human Genetics, Boston University School of Medicine, MA 02118, USA.
authors.forename: N T
authors.initials: NT
authors.lastname: Lautenschlager
authors.forename: A
authors.initials: A
authors.lastname: Milunsky
authors.forename: A
authors.initials: A
authors.lastname: DeStefano
authors.forename: L
authors.initials: L
authors.lastname: Farrer
authors.forename: C T
authors.initials: CT
authors.lastname: Baldwin
mesh_terms: D001665:Binding Sites; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D051739:Microphthalmia-Associated Transcription Factor; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D014157:Transcription Factors; D014849:Waardenburg Syndrome / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C497234:MITF protein, human; D051739:Microphthalmia-Associated Transcription Factor; D014157:Transcription Factors