常染色体显性遗传视锥-视杆营养不良一家系的基因突变检测_Chinese Journal of Ocular Fundus Diseases

Authors：

315040 宁波市鄞州人民医院眼科中心宁波大学医学院附属鄞州医院眼科中心;

Corresponding author：

Keywords：

视网膜疾病/遗传学; 视网膜疾病/病因学; 视锥光感受器细胞; 视网膜视杆光感受器细胞; 基因; 密码子; 无义

DOI：

10.3760/cma.j.issn.1005-1015.2016.06.017

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Citation： 赵娜, 陆勤康, 王惠云, 童奇湖. 常染色体显性遗传视锥-视杆营养不良一家系的基因突变检测. Chinese Journal of Ocular Fundus Diseases, 2016, 32(6): 637-639. doi: 10.3760/cma.j.issn.1005-1015.2016.06.017 Copy

1.	张清炯, 黎仕强, 肖学珊, 等.小儿视锥细胞与视锥杆细胞营养不良的临床特点与候选基因突变分析[J].中华眼底病杂志, 2001, 17(4):293-295.Zhang QJ, Li SQ, Xiao XS, et al.Clinical characteristics and candidate gene mutational screening in children with cone and cone-rod dystrophy[J].Chin J Ocul Fundus Dis, 2001, 17(4):293-295.
2.	Huang L, Xiao X, Li S, et al. Molecular genetics of cone-rod dystrophy in Chinese patients:new data from 61 probands and mutation overview of 163 probands[J]. Exp Eye Res, 2016, 146:252-258. DOI:10.1016/j.exer.2016.03.015.
3.	Oishi M, Oishi A, Gotoh N, et al. Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies[J]. Mol Vis, 2016, 22:150-160.
4.	Hamel CP. Cone rod dystrophies[J]. Orphanet J Rare Dis, 2007, 2:7. DOI:10.1186/1750-1172-2-7.
5.	Brzezinski JA, Reh TA. Photoreceptor cell fate specification in vertebrates[J]. Development, 2015, 142(19):3263-3273. DOI:10.1242/dev.127043.
6.	Freund CL, Gregory-Evans CY, Furukawa T, et al. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor[J].Cell, 1997, 91(4):543-553.
7.	Lines MA, Hébert M, McTaggart KE, et al. Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation[J]. Ophthalmology, 2002, 109(10):1862-1870.
8.	Melanie MS, Lori SS, Helen AM, et al. A range of clinical phenotypes associated with mutations in CRX. a photoreceptor transcription-factor gene[J]. Am J Hum Genet, 1998, 63(5):1307-1315.
9.	Li H, Xue SX, Li SQ, et al.CRX variants in cone-rod dystrophy and mutation overview[J]. Biochem Biophys Res Commun, 2012, 426(4):498-503. DOI:10.1016/j.bbrc.2012.08.110.
10.	Huang L, Zhang Q, Li S, et al. Exome sequencing of 47 Chinese families with cone-rod dystrophy:mutations in 25 known causative genes[J/OL]. PLoS One, 2013, 8(6):65546[2013-06-11].http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3679152/.DOI:10.1371/journal.pone.0065546.
11.	Lu QK, Zhao N, Lv YS, et al. A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree[J]. Int J Ophthalmol, 2015, 8(6):1112-1117.DOI:10.3980/j.issn.2222-3959.2015.06.06.

1. 张清炯, 黎仕强, 肖学珊, 等.小儿视锥细胞与视锥杆细胞营养不良的临床特点与候选基因突变分析[J].中华眼底病杂志, 2001, 17(4):293-295.Zhang QJ, Li SQ, Xiao XS, et al.Clinical characteristics and candidate gene mutational screening in children with cone and cone-rod dystrophy[J].Chin J Ocul Fundus Dis, 2001, 17(4):293-295.
2. Huang L, Xiao X, Li S, et al. Molecular genetics of cone-rod dystrophy in Chinese patients:new data from 61 probands and mutation overview of 163 probands[J]. Exp Eye Res, 2016, 146:252-258. DOI:10.1016/j.exer.2016.03.015.
3. Oishi M, Oishi A, Gotoh N, et al. Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies[J]. Mol Vis, 2016, 22:150-160.
4. Hamel CP. Cone rod dystrophies[J]. Orphanet J Rare Dis, 2007, 2:7. DOI:10.1186/1750-1172-2-7.
5. Brzezinski JA, Reh TA. Photoreceptor cell fate specification in vertebrates[J]. Development, 2015, 142(19):3263-3273. DOI:10.1242/dev.127043.
6. Freund CL, Gregory-Evans CY, Furukawa T, et al. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor[J].Cell, 1997, 91(4):543-553.
7. Lines MA, Hébert M, McTaggart KE, et al. Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation[J]. Ophthalmology, 2002, 109(10):1862-1870.
8. Melanie MS, Lori SS, Helen AM, et al. A range of clinical phenotypes associated with mutations in CRX. a photoreceptor transcription-factor gene[J]. Am J Hum Genet, 1998, 63(5):1307-1315.
9. Li H, Xue SX, Li SQ, et al.CRX variants in cone-rod dystrophy and mutation overview[J]. Biochem Biophys Res Commun, 2012, 426(4):498-503. DOI:10.1016/j.bbrc.2012.08.110.
10. Huang L, Zhang Q, Li S, et al. Exome sequencing of 47 Chinese families with cone-rod dystrophy:mutations in 25 known causative genes[J/OL]. PLoS One, 2013, 8(6):65546[2013-06-11].http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3679152/.DOI:10.1371/journal.pone.0065546.
11. Lu QK, Zhao N, Lv YS, et al. A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree[J]. Int J Ophthalmol, 2015, 8(6):1112-1117.DOI:10.3980/j.issn.2222-3959.2015.06.06.

Chinese Journal of Ocular Fundus Diseases

常染色体显性遗传视锥-视杆营养不良一家系的基因突变检测

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