Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family.
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder that is characterized by branchial cysts or fistulae, external ear malformations and/or preauricular pits, hearing loss and renal anomalies. Recent advances in molecular genetics have shown a human homologue of the Drosophila 'eyes absent' gene (EYA1) on chromosome band 8q13.3 to be the most common cause of BOR syndrome. Several mutations have been identified in the EYA1 gene in patients with BOR syndrome worldwide. Here, we report a second Korean family with BOR syndrome with a novel nonsense EYA1 mutation.
Lee
Kyu Yup
KY
Department of Otolaryngology, College of Medicine, Kyungpook National University, Daegu, Republic of Korea.
Kim
Sunghee
S
Kim
Un Kyung
UK
Ki
Chang-Seok
CS
Lee
Sang Heun
SH
D000328:Adult; D044466:Asian People / Q000235:genetics; D019280:Branchio-Oto-Renal Syndrome / Q000235:genetics*; D002675:Child, Preschool; D018389:Codon, Nonsense; D005260:Female; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D020539:Sequence Analysis, Protein
D018389:Codon, Nonsense; D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases