Identification of a novel mutation in the EYA1 gene in a Korean family with branchio-oto-renal (BOR) syndrome.
The branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the association of branchial cysts or fistulae, external ear malformation and/or preauricular pits, hearing loss, and renal anomalies. Mutations in the EYA1 gene on the chromosome band 8q13.3, the human homologue of the Drosophila eyes absent (eya) gene, have been identified to be the underlying genetic defects of the syndrome. We found a Korean family with BOR syndrome and identified a novel insertion mutation (c.1474_1475insC; R492PfsX40) in the EYA1 gene. To the best of our knowledge, this is the first report of genetically confirmed case of BOR syndrome in Korea.
Kim
Sung Hee
SH
Department of Otolaryngology, Daegu Fatima Hospital, Daegu, Republic of Korea.
Shin
Jong-Hun
JH
Yeo
Chang-Ki
CK
Chang
Soon Hee
SH
Park
Su-Yon
SY
Cho
Eun Hae
EH
Ki
Chang-Seok
CS
Kim
Jong-Won
JW
D001483:Base Sequence / Q000235:genetics; D019280:Branchio-Oto-Renal Syndrome / Q000235:genetics*; D002675:Child, Preschool; D002898:Chromosomes, Human, Pair 8; D004247:DNA / Q000737:chemistry; D004423:Ear / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D006310:Hearing Aids; D034381:Hearing Loss / Q000235:genetics / Q000534:rehabilitation; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D007668:Kidney / Q000002:abnormalities; D007723:Korea; D009154:Mutation / Q000235:genetics* / Q000502:physiology; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D014057:Tomography, X-Ray Computed
D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D004247:DNA; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases