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

Koh HJ, Jwa NS, Kim SS, Lee SC, Kwon OW - Korean J Ophthalmol (2006)

Bottom Line: 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.A novel Leu103Phe missense mutation was identified.A novel Leu103Phe mutation is an additional missense mutation which is responsible for the pathogenesis of X-linked retinoschisis.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Korea. hjkoh@yumc.yonsei.ac.kr

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.

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Related in: MedlinePlus

Pedigree of a family, and sequences of regions with mutations in the XLRS1 gene. The blackened symbol denotes phenotypically affected individual. Asterisks(*) denote individuals whose leukocyte DNA was analyzed. Direct sequencing of exon 4. The patient had a missense mutation (Leu103Phe). The altered nucleotides are shown in boldface and are denoted with arrows.
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Figure 4: Pedigree of a family, and sequences of regions with mutations in the XLRS1 gene. The blackened symbol denotes phenotypically affected individual. Asterisks(*) denote individuals whose leukocyte DNA was analyzed. Direct sequencing of exon 4. The patient had a missense mutation (Leu103Phe). The altered nucleotides are shown in boldface and are denoted with arrows.

Mentions: Direct sequencing showed that two cytosine residues were substituted into thymines and coded Phenylalanine instead of Leucine (Leu103Phe) in exon 4 of XLRS1 gene (Fig. 4). This mutations were also identified in his sister, mother and maternal uncle. The hemizygous mutation was confirmed using both sense and antisense primers.


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

Koh HJ, Jwa NS, Kim SS, Lee SC, Kwon OW - Korean J Ophthalmol (2006)

Pedigree of a family, and sequences of regions with mutations in the XLRS1 gene. The blackened symbol denotes phenotypically affected individual. Asterisks(*) denote individuals whose leukocyte DNA was analyzed. Direct sequencing of exon 4. The patient had a missense mutation (Leu103Phe). The altered nucleotides are shown in boldface and are denoted with arrows.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2908818&req=5

Figure 4: Pedigree of a family, and sequences of regions with mutations in the XLRS1 gene. The blackened symbol denotes phenotypically affected individual. Asterisks(*) denote individuals whose leukocyte DNA was analyzed. Direct sequencing of exon 4. The patient had a missense mutation (Leu103Phe). The altered nucleotides are shown in boldface and are denoted with arrows.
Mentions: Direct sequencing showed that two cytosine residues were substituted into thymines and coded Phenylalanine instead of Leucine (Leu103Phe) in exon 4 of XLRS1 gene (Fig. 4). This mutations were also identified in his sister, mother and maternal uncle. The hemizygous mutation was confirmed using both sense and antisense primers.

Bottom Line: 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.A novel Leu103Phe missense mutation was identified.A novel Leu103Phe mutation is an additional missense mutation which is responsible for the pathogenesis of X-linked retinoschisis.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Korea. hjkoh@yumc.yonsei.ac.kr

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.

Show MeSH
Related in: MedlinePlus