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
January-2020 Volume 21 Issue 1

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
January-2020 Volume 21 Issue 1

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 Open Access

A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1

  • Authors:
    • Xuhui Gao
    • Tiecheng Liu
    • Xuan Cheng
    • Aiai Dai
    • Wei Liu
    • Runpu Li
    • Maonian Zhang
  • View Affiliations / Copyright

    Affiliations: Department of Ophthalmology, Chinese PLA General Hospital, Beijing 100853, P.R. China
    Copyright: © Gao et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 240-248
    |
    Published online on: November 12, 2019
       https://doi.org/10.3892/mmr.2019.10813
  • 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

Ocular albinism type 1 (OA1) is a genetic disorder characterized by reduced eye pigmentation and nystagmus, which is often accompanied by decreased visual acuity, strabismus and other symptoms, whereas skin and hair color remain normal. The present study aimed to assess the clinical features and perform genotype analysis of a family with OA1, and to determine the disease‑causing mutation. A total of 18 family members (nine affected patients and nine normal subjects) from Hainan, China, were recruited to the present study in December 2017. A detailed clinical ophthalmic examination was performed for all participants, including a visual acuity test, anterior segment slit lamp examination, eye fundus examination and optical coherence tomography. Mutations in the G protein‑coupled receptor 143 (GPR143) gene were determined by DNA sequencing assays and polymerase chain reaction assays for deletions; all exon coding sequences, exons at the 5'‑ and 3'‑ends, and non‑coding region sequences of intron splicing were assessed. Within the family, nine male patients exhibited disease occurrence at the age of 0‑6 months. All patients presented with different degrees of iris depigmentation, horizontal jerk nystagmus, foveal hypoplasia and reduced visual acuity. The fundus of only one patient exhibited choroid coloboma; in the remaining patients, their fundi exhibited different degrees of irregular retinal depigmentation. The mutation c.360+5G>T in the GPR143 gene was identified in this family. In conclusion, the present study identified the splicing mutation c.360+5G>T in the GPR143 gene in a Chinese family with OA1 and successfully identified the site. To the best of our knowledge, there have been no previous reports regarding this mutation in any major genome databases; therefore, this outcome may enrich the mutation spectrum of the GPR143 gene.
View Figures

Figure 1

Figure 2

Figure 3

Figure 4

Figure 5

View References

1 

Rosenberg T and Schwartz M: X-linked ocular albinism: Prevalence and mutations-a national study. Eur J Hum Genet. 6:570–577. 1998. View Article : Google Scholar : PubMed/NCBI

2 

Preising M, Op de Laak JP and Lorenz B: Deletion in the OA1 gene in a family with congenital X linked nystagmus. Br J Ophthalmol. 85:1098–1103. 2001. View Article : Google Scholar : PubMed/NCBI

3 

Sallmann GB, Bray PJ, Rogers S, Quince A, Cotton RG and Carden SM: Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC. Ophthalmic Genet. 27:43–49. 2006. View Article : Google Scholar : PubMed/NCBI

4 

Lam BL, Fingert JH, Shutt BC, Singleton EM, Merin LM, Brown HH, Sheffield VC and Stone EM: Clinical and molecular characterization of a family affected with X-linked ocular albi-nism (OA1). Ophthalmic Genet. 18:175–184. 1997. View Article : Google Scholar : PubMed/NCBI

5 

O'Donnell FE Jr, King RA, Green WR and Witkop CJ Jr: Autosomal recessively inherited ocular albinism. A new form of ocular albinism affecting females as severely as males. Arch Ophthalmol. 96:1621–1625. 1978. View Article : Google Scholar : PubMed/NCBI

6 

Cortin P, Tremblay M and Lemagne JM: X-linked ocular albinism: Relative value of skin biopsy, iris transillumination and funduscopy in identifying affected males and carriers. Can J Ophthalmol. 16:121–123. 1981.PubMed/NCBI

7 

Zou X, Li H, Yang L, Sun Z, Yuan Z, Li H and Sui R: Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism. Sci Rep. 6:337132017. View Article : Google Scholar

8 

Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA and Ballabio A: Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nat Genet. 10:13–19. 1995. View Article : Google Scholar : PubMed/NCBI

9 

Palmisano I, Bagnato P, Palmigiano A, Innamorati G, Rotondo G, Altimare D, Venturi C, Sviderskaya EV, Piccirillo R, Coppola M, et al: The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. Hum Mol Genet. 17:3487–3501. 2008. View Article : Google Scholar : PubMed/NCBI

10 

d'Addio M, Pizzigoni A, Bassi MT, Baschirotto C, Valetti C, Incerti B, Clementi M, De Luca M, Ballabio A and Schiaffino MV: Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. Hum Mol Genet. 9:3011–3018. 2000. View Article : Google Scholar : PubMed/NCBI

11 

Liu JY, Ren X, Yang X, Guo T, Yao Q, Li L, Dai X, Zhang M, Wang L, Liu M and Wang QK: Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation. J Hum Genet. 52:565–570. 2007. View Article : Google Scholar : PubMed/NCBI

12 

Wang Y, Guo X, Wei A, Zhu W, Li W and Lian S: Identification of a novel mutation in a Chinese family with X-linked ocular albinism. Eur J Ophthalmol. 19:124–128. 2009. View Article : Google Scholar : PubMed/NCBI

13 

Fang S, Guo X, Jia X, Xiao X, Li S and Zhang Q: Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism. Mol Vis. 14:1974–1982. 2008.PubMed/NCBI

14 

Xiao X and Zhang Q: Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation. Am J Med Genet A 149A. 1786–1788. 2009. View Article : Google Scholar

15 

Yan N, Liao X, Cai SP, Lan C, Wang Y, Zhou X, Yin Y, Yu W and Liu X: A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism. PLoS One. 7:e431772012. View Article : Google Scholar : PubMed/NCBI

16 

Cai CY, Zhu H, Shi W, Su L, Shi O, Cai CQ, Ling C and Li WD: A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree. Genet Mol Res. 12:5673–5679. 2013. View Article : Google Scholar : PubMed/NCBI

17 

Pan Q, Yi C, Xu T, Liu J, Jing X, Hu B and Wang Y: A novel mutation, c.494C>A (p.Ala165Asp), in the GPR143 gene causes a mild phenotype in a Chinese X-linked ocular albinism patient. Acta Ophthalmol. 94:417–418. 2015. View Article : Google Scholar : PubMed/NCBI

18 

Hu J, Liang D, Xue J, Liu J and Wu L: A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus. Mol Vis. 17:715–722. 2011.PubMed/NCBI

19 

Han R, Wang X, Wang D, Wang L, Yuan Z, Ying M and Li N: GPR143 gene mutations in five chinese families with X-linked congenital nystagmus. Sci Rep. 5:120312015. View Article : Google Scholar : PubMed/NCBI

20 

Kinnear PE, Jay B and Witkop CJ Jr: Albinism. Surv Ophthalmol. 30:75–101. 1985. View Article : Google Scholar : PubMed/NCBI

21 

Charles SJ, Green JS, Grant JW, Yates JR and Moore AT: Clinical features of affected males with X linked ocular albinism. Br J Ophthalmol. 77:222–227. 1993. View Article : Google Scholar : PubMed/NCBI

22 

Schnur RE, Wick PA, Bailey C, Rebbeck T, Weleber RG, Wagstaff J, Grix AW, Pagon RA, Hockey A and Edwards MJ: Phenotypic variability in X-linked ocular albinism: Relationship to linkage genotypes. Am J Hum Genet. 55:484–496. 1994.PubMed/NCBI

23 

O'Donnell FE Jr, Green WR, Fleischman JA and Hambrick GW: X-linked ocular albinism in Blacks. Ocular albinism cum pigmento. Arch Ophthalmol. 96:1189–1192. 1978. View Article : Google Scholar : PubMed/NCBI

24 

Hayakawa M, Kanai A, Kato K, Nakajima A and Takamori K: A Japanese family of nettleship falls X-linked ocular albinism. Nippon Ganka Gakkai Zasshi (Japanese). 94:1181–1187. 1990.

25 

Oetting WS: New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. Hum Mutat. 19:85–92. 2002. View Article : Google Scholar : PubMed/NCBI

26 

Sone M and Orlow SJ: The ocular albinism type 1 gene product, OA1, spans intracellular membranes 7 times. Exp Eye Res. 85:806–816. 2007. View Article : Google Scholar : PubMed/NCBI

27 

Schiaffino MV, d'Addio M, Alloni A, Baschirotto C, Valetti C, Cortese K, Puri C, Bassi MT, Colla C, De Luca M, et al: Ocular albinism: Evidence for a defect in an intracellular signal transduction system. Nat Genet. 23:108–112. 1999. View Article : Google Scholar : PubMed/NCBI

28 

Giordano F, Bonetti C, Surace EM, Marigo V and Raposo G: The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with MART-1 at early stages of melanogenesis to control melanosome identity and composition. Hum Mol Genet. 18:4530–4545. 2009. View Article : Google Scholar : PubMed/NCBI

29 

Jia X, Yuan J, Jia X, Ling S, Li S and Guo X: GPR143 mutations in Chinese patients with ocular albinism type 1. Mol Med Rep. 15:3069–3075. 2017. View Article : Google Scholar : PubMed/NCBI

30 

Inoue K, Khajavi M, Ohyama T, Hirabayashi S, Wilson J, Reggin JD, Mancia P, Butler IJ, Wilkison MF, Wegner M and Lupski JR: Molecular mechnism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet. 36:361–369. 2004. View Article : Google Scholar : PubMed/NCBI

31 

Holbrook JA, Neu-Yilik G, Hentze MW and Kulozik AE: Nonsense-mediated decay approaches the clinic. Nat Genet. 36:801–808. 2004. View Article : Google Scholar : PubMed/NCBI

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Gao X, Liu T, Cheng X, Dai A, Liu W, Li R and Zhang M: A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1. Mol Med Rep 21: 240-248, 2020.
APA
Gao, X., Liu, T., Cheng, X., Dai, A., Liu, W., Li, R., & Zhang, M. (2020). A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1. Molecular Medicine Reports, 21, 240-248. https://doi.org/10.3892/mmr.2019.10813
MLA
Gao, X., Liu, T., Cheng, X., Dai, A., Liu, W., Li, R., Zhang, M."A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1". Molecular Medicine Reports 21.1 (2020): 240-248.
Chicago
Gao, X., Liu, T., Cheng, X., Dai, A., Liu, W., Li, R., Zhang, M."A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1". Molecular Medicine Reports 21, no. 1 (2020): 240-248. https://doi.org/10.3892/mmr.2019.10813
Copy and paste a formatted citation
x
Spandidos Publications style
Gao X, Liu T, Cheng X, Dai A, Liu W, Li R and Zhang M: A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1. Mol Med Rep 21: 240-248, 2020.
APA
Gao, X., Liu, T., Cheng, X., Dai, A., Liu, W., Li, R., & Zhang, M. (2020). A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1. Molecular Medicine Reports, 21, 240-248. https://doi.org/10.3892/mmr.2019.10813
MLA
Gao, X., Liu, T., Cheng, X., Dai, A., Liu, W., Li, R., Zhang, M."A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1". Molecular Medicine Reports 21.1 (2020): 240-248.
Chicago
Gao, X., Liu, T., Cheng, X., Dai, A., Liu, W., Li, R., Zhang, M."A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1". Molecular Medicine Reports 21, no. 1 (2020): 240-248. https://doi.org/10.3892/mmr.2019.10813
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