Home > Archive>Volume 12, Issue 7, 2019 >1057-1060. DOI:10.18240/ijo.2019.07.01
HTML XML Export Cite reminder
Novel mutation in OCRL leading to a severe form of Lowe syndrome
Author:
Corresponding Author:

Wei-Rong Chen and Hao-Tian Lin. State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, Guangdong Province, China. chenwr_q@aliyun.com; haot.lin@hotmail.com

Fund Project:

Supported by the National Natural Science Foundation of China (No.81700812); the Ph.D. Start-up Fund of Natural Science Foundation of Guangdong Province (No.2017A030310214); the Guangdong Provincial Foundation for Medical Scientific Research (No.A2017016).

  • Article
    • | |
  • Metrics
    • |
  • Reference
    • |
  • Related
    • |
  • Cited by
    • | |
  • Comments
    Abstract:

    AIM: To investigate the phenotype and genotype of a family with X-linked recessive Lowe syndrome. METHODS: All the members in the Chinese pedigree underwent comprehensive ophthalmologic and systemic examinations. Genomic DNA was isolated from peripheral blood of the pedigree members and 100 unrelated healthy Chinese subjects. Direct sequencing was performed to screen the exons and intron boundaries of OCRL. RESULTS: The ophthalmological and systemic examinations suggested that the affected individual had Lowe syndrome. The phenotype in the pedigree is severe and consistent among all the affected individuals except for an individual who additionally suffered from congenital heart disease and laryngeal cartilage dysplasia. Directional Sanger sequencing identified a complex mutation c.(2368_2368delG; c.2370A>C) in the Rho-GTPase activating protein domain. This complex mutation causes termination of protein synthesis at amino acid 824 and result in a new peptide with 823 amino acids (p.Ala790ProfsX34). This mutation was not detected in 100 unrelated healthy Chinese subjects. CONCLUSION: Our findings expand the phenotypic and genotypic spectrum of Lowe syndrome.

    Reference
    Related
    Cited by
Get Citation

Feng-Qi Zhou, Qi-Wei Wang, Zhen-Zhen Liu,/et al.Novel mutation in OCRL leading to a severe form of Lowe syndrome. Int J Ophthalmol, 2019,12(7):1057-1060

Copy
Share
Article Metrics
  • Abstract:1399
  • PDF: 791
  • HTML: 340
  • Cited by: 0
Publication History
  • Received:October 16,2018
  • Revised:February 01,2019
  • Online: May 20,2019
You are the  Visitors
Governing Body：Department of Health, Provincial Government of Shaanxi, China
Organizer：Xi'an Medical Association of China
Address：Room 11707-08, Building 2, Unit 1, Wanda Plaza, No.8 Yanta North Road, Xi'an 710054, Shaanxi Province, China
Fax：(8629)82245172 Phone：(+8629)82245172/82210956
Email：ijopress@163.com
International Journal of Ophthalmology ® 2025 All Rights Reserved   The terms of CC BY-NC-ND 4.0 are applicable to all open access content.