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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 109 - 112 (4page)
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X-linked retinoschisis (XLRS; MIM 312700) is one of the most common genetic causes of progressive retinal degeneration in young males [1]. The main clinical feature of XLRS is schisis (splitting) of the retinal layers, leading to visual failure early in life [1]. XLRS is caused by mutations in RS1, located on chromosome Xp22.13 and encoding the RS1 protein, which plays an important role in the cellular organization of the retina [2]. Of the Korean cases of XLRS based on molecular studies [3-5], the most frequent RS1 variant was the missense type (88%, 14/16) [4]. We report a case of late-onset XLRS in a Korean patient harboring a novel pathogenic RS1 frameshift variant (c.362delA) and compare his clinical and molecular characteristics with those of patients from previous studies. To our knowledge, this is the first genetically confirmed case of late onset XLRS with a pathogenic frameshift variant in the Korean population. Institutional Review Board approval was exempted for this study.
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참고문헌 (10)
참고문헌 신청
Molday RS / 2012 / X-linked juvenile retinoschisis : clinical diagnosis, genetic analysis, and molecular mechanisms / Prog Retin Eye Res 31:195~212
Kim DY / 2013 / X-linked juvenile retinoschisis(XLRS) : a review of genotype-phenotype relationships / Semin Ophthalmol 28:392~396
Da Hyun Kim / 2018 / A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis / 대한의학유전학회지 15(1):13~16
Kim SY / 2009 / Molecular genetic characteristics of X-linked retinoschisis in Koreans / Mol Vis 15:833~843
Hyoung Jun Koh / 2006 / A Novel Mutation in the XLRS1 Gene in a Korean Family with X-linked Retinoschisis / Korean Journal of Ophthalmology 20(1):62~64
Kim DY / 2013 / X-linked juvenile retinoschisis(XLRS) : a review of genotype-phenotype relationships / Semin Ophthalmol 28:392~396
Da Hyun Kim / 2018 / A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis / 대한의학유전학회지 15(1):13~16
Kim SY / 2009 / Molecular genetic characteristics of X-linked retinoschisis in Koreans / Mol Vis 15:833~843
Hyoung Jun Koh / 2006 / A Novel Mutation in the XLRS1 Gene in a Korean Family with X-linked Retinoschisis / Korean Journal of Ophthalmology 20(1):62~64
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