title: Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family.
abstract: Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by variable clinical manifestations including branchial fistulae, preauricular pits, ear malformations, hearing impairment, and renal anomalies. BOR is caused by mutations in the genes EYA1 and SIX1. A Danish BOR family with five affected individuals in three generations was analyzed for mutations in all 17 exons of EYA1 using direct sequencing of polymerase chain reaction (PCR) amplified genomic DNA. A novel splice-site mutation (IVS9+1 G>C) was detected in all affected family members but not in unaffected family members or in 96 controls. We conclude that this mutation is causing BOR in the family, most likely as a result of haploinsufficiency or an abnormal protein product caused by aberrant splicing of EYA1 mRNA.
authors.affiliation: Willhelm Johansen Centre for Functional Genome Research, Department of Medical Biochemistry and Genetics, University of Copenhagen, Blegdamsvej 3, DK-2200 Copenhagen, Denmark.
authors.forename: Ann Marie
authors.initials: AM
authors.lastname: Henriksen
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Tümer
authors.forename: Niels
authors.initials: N
authors.lastname: Tommerup
authors.forename: Lisbeth
authors.initials: L
authors.lastname: Tranebjaerg
authors.forename: Lars Allan
authors.initials: LA
authors.lastname: Larsen
mesh_terms: D019280:Branchio-Oto-Renal Syndrome / Q000235:genetics*; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D003718:Denmark; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D022821:RNA Splice Sites / Q000235:genetics
chemical_list: D022821:RNA Splice Sites