Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family

TY - JOUR

T1 - Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family

AU - Henriksen, Ann Marie

AU - Tümer, Zeynep

AU - Tommerup, Niels

AU - Tranebjaerg, Lisbeth

AU - Larsen, Lars Allan

N1 - Keywords: Branchio-Oto-Renal Syndrome; Case-Control Studies; DNA Mutational Analysis; Denmark; Female; Humans; Male; Pedigree; Point Mutation; Polymerase Chain Reaction; RNA Splice Sites

PY - 2004

Y1 - 2004

N2 - 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.

AB - 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.

U2 - 10.1089/gte.2004.8.404

DO - 10.1089/gte.2004.8.404

M3 - Journal article

C2 - 15684871

SN - 1945-0265

VL - 8

SP - 404

EP - 406

JO - Genetic Testing and Molecular Biomarkers

JF - Genetic Testing and Molecular Biomarkers

IS - 4

ER -