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 | |
| Publication status | Published - 2006 Jan 1 |
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All Science Journal Classification (ASJC) codes
- Medicine(all)
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A novel mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis. / Koh, Hyoung Jun; Jwa, Nam Soo; Kim, Sung Soo; Lee, Sungchul; Kwon, Oh Woong.
In: Korean journal of ophthalmology : KJO, Vol. 20, No. 1, 01.01.2006, p. 62-64.Research output: Contribution to journal › Article
TY - JOUR
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, Sungchul
AU - Kwon, Oh Woong
PY - 2006/1/1
Y1 - 2006/1/1
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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UR - http://www.scopus.com/inward/citedby.url?scp=33745595661&partnerID=8YFLogxK
U2 - 10.3341/kjo.2006.20.1.62
DO - 10.3341/kjo.2006.20.1.62
M3 - Article
VL - 20
SP - 62
EP - 64
JO - Korean journal of ophthalmology : KJO
JF - Korean journal of ophthalmology : KJO
SN - 1011-8942
IS - 1
ER -