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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
- 수록면
- 536 - 539 (4page)
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Stargardt-like macular dystrophy 4 (STGD4) is a rare macular dystrophy characterized by bull’s eye atrophy of the macula and the underlying retinal pigment epithelium. Patients with STGD4 show decreased central vision, which often progresses to severe vision loss. The PROM1 gene encodes prominin-1, which is a 5-transmembrane glycoprotein also known as CD133 and is involved in photoreceptor disk morphogenesis. PROM1 mutations have been identified as genetic causes for STGD4 and other retinal degenerations such as retinitis pigmentosa. We report a case of STGD4 with a PROM1 p.R373C mutation in a Korean patient. Ophthalmic examinations of a 38-yr old man complaining of decreased visual acuity revealed bilateral atrophic macular lesions consistent with STGD4. Targeted exome sequencing of known inherited retinal degeneration genes revealed a heterozygous missense mutation c.1117C>T (p.R373C) of PROM1, which was confirmed by Sanger sequencing. To the best of our knowledge, this is the first case of a PROM1 mutation causing STGD4 in Koreans.
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참고문헌 (19)
참고문헌 신청
Adzhubei I / 2013 / Predicting functional effect of human missense mutations using PolyPhen-2 / Curr Protoc Hum Genet (Chapter 7)
Allikmets R / 1997 / A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy / Nat Genet 15 : 236 ~ 246
Arrigoni FI / 2011 / Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy / Eur J Hum Genet 19 : 131 ~ 137
Davydov EV / 2010 / Identifying a high fraction of the human genome to be under selective constraint using GERP++ / PLoS Comput Biol 6 : e1001025 ~
Kempermann G / 2006 / Natural variation and genetic covariance in adult hippocampal neurogenesis / Proc Natl Acad Sci U S A 103 : 780 ~ 785
Allikmets R / 1997 / A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy / Nat Genet 15 : 236 ~ 246
Arrigoni FI / 2011 / Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy / Eur J Hum Genet 19 : 131 ~ 137
Davydov EV / 2010 / Identifying a high fraction of the human genome to be under selective constraint using GERP++ / PLoS Comput Biol 6 : e1001025 ~
Kempermann G / 2006 / Natural variation and genetic covariance in adult hippocampal neurogenesis / Proc Natl Acad Sci U S A 103 : 780 ~ 785
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