Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis.
case_report · Level V
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Abstract
To report two novel point mutations of the XLRS1 gene in two Japanese patients with X-linked juvenile retinoschisis. Observational case reports. The exons, including the flanking introns of XLRS1, were amplified by polymerase chain reaction and analyzed by direct sequencing. One novel splice donor site mutation (IVS2 + 1g to a) and one missense mutation of exon 6 (Ala211Thr) were found. Genetic findings identifying mutations in the XLRS1 gene will lead to earlier and more accurate diagnosis of X-linked juvenile retinoschisis.
Medical subject headings
- Eye Proteins
- Point Mutation
- Retinoschisis