Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family

Kyu Yup Lee; Sung Hee Kim; Un Kyung Kim; Chang Seok Ki; Sang Heun Lee

doi:10.1016/j.ijporl.2006.08.023

Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family

Kyu Yup Lee, Sung Hee Kim, Un Kyung Kim, Chang Seok Ki, Sang Heun Lee

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14 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	169-174
Number of pages	6
Journal	International Journal of Pediatric Otorhinolaryngology
Volume	71
Issue number	1
DOIs	https://doi.org/10.1016/j.ijporl.2006.08.023
State	Published - Jan 2007

Keywords

BOR
Branchio-oto-renal syndrome
EYA1
Korean
Mutation

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10.1016/j.ijporl.2006.08.023

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title = "Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family",

abstract = "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.",

keywords = "BOR, Branchio-oto-renal syndrome, EYA1, Korean, Mutation",

author = "Lee, {Kyu Yup} and Kim, {Sung Hee} and Kim, {Un Kyung} and Ki, {Chang Seok} and Lee, {Sang Heun}",

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AU - Kim, Un Kyung

AU - Ki, Chang Seok

AU - Lee, Sang Heun

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AB - 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.

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KW - Branchio-oto-renal syndrome

KW - EYA1

KW - Korean

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Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family

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