Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Molecular Medicine Reports
Join Editorial Board Propose a Special Issue
Print ISSN: 1791-2997 Online ISSN: 1791-3004
Journal Cover
March-2015 Volume 11 Issue 3

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
March-2015 Volume 11 Issue 3

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML
Article

Mutation analysis of Leber congenital amaurosis‑associated genes in patients with retinitis pigmentosa

  • Authors:
    • Tao Shen
    • Liping Guan
    • Shiqiang Li
    • Jianguo Zhang
    • Xueshan Xiao
    • Hui  Jiang
    • Jianhua Yang
    • Xiangming Guo
    • Jun Wang
    • Qingjiong Zhang
  • View Affiliations / Copyright

    Affiliations: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat‑sen University, Guangzhou, Guangdong 510060, P.R. China, BGI-Shenzhen, Shenzhen, Guangdong 518083, P.R. China
  • Pages: 1827-1832
    |
    Published online on: November 7, 2014
       https://doi.org/10.3892/mmr.2014.2894
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

The genetic defects underlying approximately half of all retinitis pigmentosa (RP) cases are unknown. A number of genes responsible for Leber congenital amaurosis (LCA) may also cause RP when they are mutated. Our previous study revealed that variants in the most frequently mutated nine exons accounted for approximately half of the mutations detected in a cohort of patients with LCA. The aim of the present study was to detect mutations in LCA-associated genes in patients with RP using two different strategies. Sanger sequencing was used to screen mutations in the nine exons in 293 patients with RP and exome sequencing was used to detect variants in 12 LCA-associated genes in 157 of the 293 patients with RP and then to validate the variants by Sanger sequencing. Potential pathogenic mutations were identified in four patients with early onset RP, including homozygous CRB1 mutations in two patients, compound heterozygous CRB1 mutations in one patient and compound heterozygous CEP290 mutations in one patient. The present study indicated that mutations in CEP290 may also be associated with RP but not with LCA. With the exception of CEP290, the remaining 11 genes known to be associated with LCA but not with RP are unlikely to be a common cause of RP.
View Figures

Figure 1

View References

1 

Parmeggiani F: Clinics, epidemiology and genetics of retinitis pigmentosa. Curr Genomics. 12:236–237. 2011. View Article : Google Scholar : PubMed/NCBI

2 

Hu DN: Prevalence and mode of inheritance of major genetic eye diseases in China. J Med Genet. 24:584–588. 1987. View Article : Google Scholar : PubMed/NCBI

3 

Hartong DT, Berson EL and Dryja TP: Retinitis pigmentosa. Lancet. 368:1795–1809. 2006. View Article : Google Scholar : PubMed/NCBI

4 

Li L, Xiao X, Li S, et al: Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. PLoS One. 6:e194582011. View Article : Google Scholar : PubMed/NCBI

5 

den Hollander AI, Heckenlively JR, van den Born LI, et al: Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. Am J Hum Genet. 69:198–203. 2001. View Article : Google Scholar : PubMed/NCBI

6 

Zernant J, Külm M, Dharmaraj S, et al: Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. Invest Ophthalmol Vis Sci. 46:3052–3059. 2005. View Article : Google Scholar : PubMed/NCBI

7 

Reese MG, Eeckman FH, Kulp D and Haussler D: Improved splice site detection in Genie. J Comput Biol. 4:311–323. 1997. View Article : Google Scholar : PubMed/NCBI

8 

Morimura H, Fishman GA, Grover SA, et al: Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. Proc Natl Acad Sci USA. 95:3088–3093. 1998. View Article : Google Scholar : PubMed/NCBI

9 

Rivolta C, Sharon D, DeAngelis MM and Dryja TP: Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum Mol Genet. 11:1219–1227. 2002. View Article : Google Scholar : PubMed/NCBI

10 

Booij JC, Florijn RJ, ten Brink JB, et al: Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa. J Med Genet. 42:e672005. View Article : Google Scholar : PubMed/NCBI

11 

Sohocki MM, Bowne SJ, Sullivan LS, et al: Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nat Genet. 24:79–83. 2000. View Article : Google Scholar

12 

Aldahmesh MA, Al-Owain M, Alqahtani F, Hazzaa S and Alkuraya FS: A null mutation in CABP4 causes Leber’s congenital amaurosis-like phenotype. Mol Vis. 16:207–212. 2010.PubMed/NCBI

13 

den Hollander AI, Koenekoop RK, Yzer S, et al: Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet. 79:556–561. 2006. View Article : Google Scholar : PubMed/NCBI

14 

Abu-Safieh L, Alrashed M, Anazi S, et al: Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res. 23:236–247. 2013. View Article : Google Scholar :

15 

Perrault I, Rozet JM, Calvas P, et al: Retinal-specific guanylate cyclase gene mutations in Leber’s congenital amaurosis. Nat Genet. 14:461–464. 1996. View Article : Google Scholar : PubMed/NCBI

16 

Estrada-Cuzcano A, Koenekoop RK, Coppieters F, et al: IQCB1 mutations in patients with leber congenital amaurosis. Invest Ophthalmol Vis Sci. 52:834–839. 2011. View Article : Google Scholar

17 

Sergouniotis PI, Davidson AE, Mackay DS, et al: Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis. Am J Hum Genet. 89:183–190. 2011. View Article : Google Scholar : PubMed/NCBI

18 

den Hollander AI, Koenekoop RK, Mohamed MD, et al: Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet. 39:889–895. 2007. View Article : Google Scholar : PubMed/NCBI

19 

Koenekoop RK, Wang H, Majewski J, et al: Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. Nat Genet. 44:1035–1039. 2012. View Article : Google Scholar : PubMed/NCBI

20 

Henderson RH, Williamson KA, Kennedy JS, et al: A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction. Mol Vis. 15:2442–2447. 2009.PubMed/NCBI

21 

Friedman JS, Chang B, Kannabiran C, et al: Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. Am J Hum Genet. 79:1059–1070. 2006. View Article : Google Scholar : PubMed/NCBI

22 

Dryja TP, Adams SM, Grimsby JL, et al: Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am J Hum Genet. 68:1295–1298. 2001. View Article : Google Scholar : PubMed/NCBI

23 

Ji Y, Wang J, Xiao X, Li S, Guo X and Zhang Q: Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa. Curr Eye Res. 35:73–79. 2010. View Article : Google Scholar

24 

Wang Q, Wang P, Li S, et al: Mitochondrial DNA haplogroup distribution in Chaoshanese with and without myopia. Mol Vis. 16:303–309. 2010.PubMed/NCBI

25 

Chen Y, Zhang Q, Shen T, et al: Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis. Invest Ophthalmol Vis Sci. 54:4351–4357. 2013. View Article : Google Scholar : PubMed/NCBI

26 

Li Y, Vinckenbosch N, Tian G, et al: Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants. Nat Genet. 42:969–972. 2010. View Article : Google Scholar : PubMed/NCBI

27 

Xu Y, Guan L, Shen T, et al: Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing. Hum Genet. 133:1255–1271. 2014. View Article : Google Scholar : PubMed/NCBI

28 

Flanagan SE, Patch AM and Ellard S: Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations. Genet Test Mol Biomarkers. 14:533–537. 2010. View Article : Google Scholar : PubMed/NCBI

29 

Ramensky V, Bork P and Sunyaev S: Human non-synonymous SNPs: server and survey. Nucleic Acids Res. 30:3894–3900. 2002. View Article : Google Scholar : PubMed/NCBI

30 

Kumar P, Henikoff S and Ng PC: Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 4:1073–1081. 2009. View Article : Google Scholar : PubMed/NCBI

31 

Wang J, Liu J and Zhang Q: FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. Mol Vis. 13:108–113. 2007.PubMed/NCBI

32 

Neveling K, Collin RW, Gilissen C, et al: Next-generation genetic testing for retinitis pigmentosa. Hum Mutat. 33:963–972. 2012. View Article : Google Scholar : PubMed/NCBI

33 

Beryozkin A, Zelinger L, Bandah-Rozenfeld D, et al: Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations. Invest Ophthalmol Vis Sci. 54:2068–2075. 2013. View Article : Google Scholar : PubMed/NCBI

34 

Bujakowska K, Audo I, Mohand-Saïd S, et al: CRB1 mutations in inherited retinal dystrophies. Hum Mutat. 33:306–315. 2012. View Article : Google Scholar :

35 

Corton M, Tatu SD, Avila-Fernandez A, et al: High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population. Orphanet J Rare Dis. 8:202013. View Article : Google Scholar : PubMed/NCBI

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Shen T, Guan L, Li S, Zhang J, Xiao X, Jiang H, Yang J, Guo X, Wang J, Zhang Q, Zhang Q, et al: Mutation analysis of Leber congenital amaurosis‑associated genes in patients with retinitis pigmentosa. Mol Med Rep 11: 1827-1832, 2015.
APA
Shen, T., Guan, L., Li, S., Zhang, J., Xiao, X., Jiang, H. ... Zhang, Q. (2015). Mutation analysis of Leber congenital amaurosis‑associated genes in patients with retinitis pigmentosa. Molecular Medicine Reports, 11, 1827-1832. https://doi.org/10.3892/mmr.2014.2894
MLA
Shen, T., Guan, L., Li, S., Zhang, J., Xiao, X., Jiang, H., Yang, J., Guo, X., Wang, J., Zhang, Q."Mutation analysis of Leber congenital amaurosis‑associated genes in patients with retinitis pigmentosa". Molecular Medicine Reports 11.3 (2015): 1827-1832.
Chicago
Shen, T., Guan, L., Li, S., Zhang, J., Xiao, X., Jiang, H., Yang, J., Guo, X., Wang, J., Zhang, Q."Mutation analysis of Leber congenital amaurosis‑associated genes in patients with retinitis pigmentosa". Molecular Medicine Reports 11, no. 3 (2015): 1827-1832. https://doi.org/10.3892/mmr.2014.2894
Copy and paste a formatted citation
x
Spandidos Publications style
Shen T, Guan L, Li S, Zhang J, Xiao X, Jiang H, Yang J, Guo X, Wang J, Zhang Q, Zhang Q, et al: Mutation analysis of Leber congenital amaurosis‑associated genes in patients with retinitis pigmentosa. Mol Med Rep 11: 1827-1832, 2015.
APA
Shen, T., Guan, L., Li, S., Zhang, J., Xiao, X., Jiang, H. ... Zhang, Q. (2015). Mutation analysis of Leber congenital amaurosis‑associated genes in patients with retinitis pigmentosa. Molecular Medicine Reports, 11, 1827-1832. https://doi.org/10.3892/mmr.2014.2894
MLA
Shen, T., Guan, L., Li, S., Zhang, J., Xiao, X., Jiang, H., Yang, J., Guo, X., Wang, J., Zhang, Q."Mutation analysis of Leber congenital amaurosis‑associated genes in patients with retinitis pigmentosa". Molecular Medicine Reports 11.3 (2015): 1827-1832.
Chicago
Shen, T., Guan, L., Li, S., Zhang, J., Xiao, X., Jiang, H., Yang, J., Guo, X., Wang, J., Zhang, Q."Mutation analysis of Leber congenital amaurosis‑associated genes in patients with retinitis pigmentosa". Molecular Medicine Reports 11, no. 3 (2015): 1827-1832. https://doi.org/10.3892/mmr.2014.2894
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team