A novel mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis.

Hyoung Jun Koh; Nam Soo Jwa; Sung Soo Kim; Sung Chul Lee; Oh Woong Kwon

doi:10.3341/kjo.2006.20.1.62

A novel mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis.

Hyoung Jun Koh, Nam Soo Jwa, Sung Soo Kim, Sung Chul Lee, Oh Woong Kwon

Department of Ophthalmology

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

3 Citations (Scopus)

Abstract

PURPOSE: To report a novel missense mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis. METHODS: Observation case report of a family with a proband with X-linked retinoschisis underwent complete ophthalmologic examination. Genomic DNA was excluded from the family's blood and all exons of the XLRS1 gene were amplified by polymerase chain reaction and analyzed using a direct sequencing method. RESULTS: A novel Leu103Phe missense mutation was identified. CONCLUSIONS: A novel Leu103Phe mutation is an additional missense mutation which is responsible for the pathogenesis of X-linked retinoschisis.

Original language	English
Pages (from-to)	62-64
Number of pages	3
Journal	Korean journal of ophthalmology : KJO
Volume	20
Issue number	1
DOIs	https://doi.org/10.3341/kjo.2006.20.1.62
Publication status	Published - 2006 Mar

All Science Journal Classification (ASJC) codes

Medicine(all)

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title = "A novel mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis.",

abstract = "PURPOSE: To report a novel missense mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis. METHODS: Observation case report of a family with a proband with X-linked retinoschisis underwent complete ophthalmologic examination. Genomic DNA was excluded from the family's blood and all exons of the XLRS1 gene were amplified by polymerase chain reaction and analyzed using a direct sequencing method. RESULTS: A novel Leu103Phe missense mutation was identified. CONCLUSIONS: A novel Leu103Phe mutation is an additional missense mutation which is responsible for the pathogenesis of X-linked retinoschisis.",

author = "Koh, {Hyoung Jun} and Jwa, {Nam Soo} and Kim, {Sung Soo} and Lee, {Sung Chul} and Kwon, {Oh Woong}",

year = "2006",

month = mar,

doi = "10.3341/kjo.2006.20.1.62",

language = "English",

volume = "20",

pages = "62--64",

journal = "Korean journal of ophthalmology : KJO",

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T1 - A novel mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis.

AU - Koh, Hyoung Jun

AU - Jwa, Nam Soo

AU - Kim, Sung Soo

AU - Lee, Sung Chul

AU - Kwon, Oh Woong

PY - 2006/3

Y1 - 2006/3

N2 - PURPOSE: To report a novel missense mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis. METHODS: Observation case report of a family with a proband with X-linked retinoschisis underwent complete ophthalmologic examination. Genomic DNA was excluded from the family's blood and all exons of the XLRS1 gene were amplified by polymerase chain reaction and analyzed using a direct sequencing method. RESULTS: A novel Leu103Phe missense mutation was identified. CONCLUSIONS: A novel Leu103Phe mutation is an additional missense mutation which is responsible for the pathogenesis of X-linked retinoschisis.

AB - PURPOSE: To report a novel missense mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis. METHODS: Observation case report of a family with a proband with X-linked retinoschisis underwent complete ophthalmologic examination. Genomic DNA was excluded from the family's blood and all exons of the XLRS1 gene were amplified by polymerase chain reaction and analyzed using a direct sequencing method. RESULTS: A novel Leu103Phe missense mutation was identified. CONCLUSIONS: A novel Leu103Phe mutation is an additional missense mutation which is responsible for the pathogenesis of X-linked retinoschisis.

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A novel mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis.

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