Korean J Ophthalmol.  2006 Mar;20(1):62-64. 10.3341/kjo.2006.20.1.62.

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

• KMID: 1099074
• DOI: http://doi.org/10.3341/kjo.2006.20.1.62

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.

Keyword

Missense; Mutation; X-linked retinoschisis; XLRS1

MeSH Terms

Retinoschisis/*genetics
Photoreceptors, Vertebrate
Pedigree
*Mutation, Missense
Male
Korea
Humans
Eye Proteins/*genetics
DNA/*genetics
Child

Figure

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  Fig. 1 Fundus photograph shows spoke-wheel shaped macular schisis with golden yellow fundus reflex in the peripheral retina.

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  Fig. 2 Single-flash electroretinogram shows reduced b waves in both eyes.

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  Fig. 3 Optical coherence tomogram showing foveal retinoschisis with with multiple cysts.

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  Fig. 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.

Reference

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3. The retinoschisis consortium. Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS). Human Molecular Genetics. 1998. 7:1185–1192.