A Novel Mutation in the XLRS1 Gene in a Korean Family with X-linked Retinoschisis
نویسندگان
چکیده
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.
منابع مشابه
Mutational Screening of RS1 gene in X-linked Retinoschisis in an South Indian Family
Purpose: To screen XLRS1 gene for genetic mutations and describe the ocular phenotypes in an X-Linked retinoschisis family. Methods: Ophthalmic examination, including best-corrected visual acuity, fundus photography, Ocular Coherence Tomography/Scanning Laser Ophthalmoscopy (OCT/SLO) and full-field Electroretinography (ERG) was performed in the family. Pedigree was obtained and peripheral blood...
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