Case report: A novel frameshift mutation in the EYA1 gene in a Korean family with branchio-oto-renal syndrome

Dae Lee Jong; Shi Chan Kim; Woo Koh Yoon; Hye Jin Lee; Soo Young Choi; Un Kyung Kim

Case report: A novel frameshift mutation in the EYA1 gene in a Korean family with branchio-oto-renal syndrome

Dae Lee Jong, Shi Chan Kim, Woo Koh Yoon, Hye Jin Lee, Soo Young Choi, Un Kyung Kim

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

Abstract

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial cleft fistulae or cysts, preauricular pits, ear malformations, hearing loss, and renal anomalies. Mutations in the human homologue of the Drosophilia eyes absent gene (EYA1) are the most common cause of BOR syndrome. In this study, we found a Korean family showing clinical features of the disease. Mutation analysis of the EYA1 gene revealed a novel one-base-pair deletion resulting in truncated protein (c.321delT; p.Ala107fs). This is the first report of BOR syndrome caused by deletion mutation of the EYA1 gene in Korea.

Original language	English
Pages (from-to)	303-306
Number of pages	4
Journal	Annals of Clinical and Laboratory Science
Volume	39
Issue number	3
State	Published - Jun 2009

Keywords

Branchio-oto-renal syndrome
EYA1 gene mutation

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title = "Case report: A novel frameshift mutation in the EYA1 gene in a Korean family with branchio-oto-renal syndrome",

abstract = "Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial cleft fistulae or cysts, preauricular pits, ear malformations, hearing loss, and renal anomalies. Mutations in the human homologue of the Drosophilia eyes absent gene (EYA1) are the most common cause of BOR syndrome. In this study, we found a Korean family showing clinical features of the disease. Mutation analysis of the EYA1 gene revealed a novel one-base-pair deletion resulting in truncated protein (c.321delT; p.Ala107fs). This is the first report of BOR syndrome caused by deletion mutation of the EYA1 gene in Korea.",

keywords = "Branchio-oto-renal syndrome, EYA1 gene mutation",

author = "Jong, {Dae Lee} and Kim, {Shi Chan} and Yoon, {Woo Koh} and Lee, {Hye Jin} and Choi, {Soo Young} and Kim, {Un Kyung}",

year = "2009",

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T2 - A novel frameshift mutation in the EYA1 gene in a Korean family with branchio-oto-renal syndrome

AU - Jong, Dae Lee

AU - Kim, Shi Chan

AU - Yoon, Woo Koh

AU - Lee, Hye Jin

AU - Choi, Soo Young

AU - Kim, Un Kyung

PY - 2009/6

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N2 - Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial cleft fistulae or cysts, preauricular pits, ear malformations, hearing loss, and renal anomalies. Mutations in the human homologue of the Drosophilia eyes absent gene (EYA1) are the most common cause of BOR syndrome. In this study, we found a Korean family showing clinical features of the disease. Mutation analysis of the EYA1 gene revealed a novel one-base-pair deletion resulting in truncated protein (c.321delT; p.Ala107fs). This is the first report of BOR syndrome caused by deletion mutation of the EYA1 gene in Korea.

AB - Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial cleft fistulae or cysts, preauricular pits, ear malformations, hearing loss, and renal anomalies. Mutations in the human homologue of the Drosophilia eyes absent gene (EYA1) are the most common cause of BOR syndrome. In this study, we found a Korean family showing clinical features of the disease. Mutation analysis of the EYA1 gene revealed a novel one-base-pair deletion resulting in truncated protein (c.321delT; p.Ala107fs). This is the first report of BOR syndrome caused by deletion mutation of the EYA1 gene in Korea.

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JF - Annals of Clinical and Laboratory Science

IS - 3

ER -

Case report: A novel frameshift mutation in the EYA1 gene in a Korean family with branchio-oto-renal syndrome

Abstract

Keywords

UN SDGs

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