지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 359 - 366 (8page)
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초록· 키워드
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Background Retinitis pigmentosa (RP) is the most common form of hereditary retinal degeneration that can cause inherited blindness. RP has extreme genetic and clinical heterogeneity, which brings a major obstacle to obtaining an accurate molecular diagnosis. Objective To analyze the genetic defect in a Chinese family of RP with a few atypical manifestations. Methods Whole-exome sequencing (WES) was applied to identify the disease-associated genes. Sanger sequencing was performed to validate the variants of candidate genes in the patient and his parents. In vitro expression analysis was further conducted to examine the potential biological function of the gene variant. Results A heterozygous nonsense variant c.292C > T (p.R98X) of CRX gene was identified to be present in the affected male. The c.292C > T variant of CRX was absent in all of the searched databases, including the 10,000 Chinese exome database. The nonsense variant was supposed to result in a truncated CRX protein with a destroyed homedomain (HD), which is essential for CRX translation. Interestingly, the following assay showed that the potential truncated protein was not detected, indicating that the variant may cause a loss-of-function mutation of CRX gene. Conclusion We identified a novel heterozygous null mutation in the CRX gene which was the first evidence of a nonsense mutation in the HD domain of CRX. Our finding suggested that the haploinsufficiency mutation of CRX gene contributed to the atypical and mild manifestations of the autosomal dominant RP in the Chinese family.
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참고문헌 (23)
참고문헌 신청
Bowne SJ / 2011 / Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa(adRP)using next-generation DNA sequencing / Invest Ophthalmol Vis Sci 52:494~503
Bravo-Gil N / 2017 / Unravelling the genetic basis of simplex retinitis pigmentosa cases / Sci Rep 7:41937
Chau KY / 2000 / Functional domains of the cone-rod homeobox(CRX)transcription factor / J Biol Chem 275:37264~37270
Coppieters F / 2007 / Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa / Am J Hum Genet 81:147~157
Evans DR / 2017 / Novel 25 kb Deletion of MERTK causes retinitis pigmentosa with severe progression / Invest Ophthalmol Vis Sci 58:1736~1742
Bravo-Gil N / 2017 / Unravelling the genetic basis of simplex retinitis pigmentosa cases / Sci Rep 7:41937
Chau KY / 2000 / Functional domains of the cone-rod homeobox(CRX)transcription factor / J Biol Chem 275:37264~37270
Coppieters F / 2007 / Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa / Am J Hum Genet 81:147~157
Evans DR / 2017 / Novel 25 kb Deletion of MERTK causes retinitis pigmentosa with severe progression / Invest Ophthalmol Vis Sci 58:1736~1742
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