UCL  IRIS
Institutional Research Information Service
UCL Logo
Please report any queries concerning the funding data grouped in the sections named "Externally Awarded" or "Internally Disbursed" (shown on the profile page) to your Research Finance Administrator. Your can find your Research Finance Administrator at http://www.ucl.ac.uk/finance/research/post_award/post_award_contacts.php by entering your department
Please report any queries concerning the student data shown on the profile page to:

Email: portico-services@ucl.ac.uk

Help Desk: http://www.ucl.ac.uk/ras/portico/helpdesk
Publication Detail
A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract.
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Article
  • Authors:
    Berry V, Pontikos N, Albarca-Aguilera M, Plagnol V, Massouras A, Prescott D, Moore AT, Arno G, Cheetham ME, Michaelides M
  • Publication date:
    17/10/2017
  • Pagination:
    1, 6
  • Journal:
    Ophthalmic genetics
  • Medium:
    Print-Electronic
  • Status:
    Published
  • Print ISSN:
    1381-6810
  • Language:
    eng
  • Addresses:
    a Genetics, UCL Institute of Ophthalmology , London , UK.
Abstract
Intoduction: Inherited cataract, opacification of the lens, is the most common worldwide cause of blindness in children. We aimed to identify the genetic cause of autosomal dominant (AD) posterior nuclear cataract in a four generation British family.Whole genome sequence (WGS) was performed on two affected and one unaffected individual of the family and further validated by direct sequencing. Haplotype analysis was performed via genotying.A splice-site mutation c.2826-9G>A in the gene EPHA2, encoding EPH receptor A2 was identified and found to co-segregate with disease.We have identified a recurrent splice-site mutation c.2826-9G>A in EPHA2 causing isolated posterior nuclear cataract, providing evidence of further phenotypic heterogeneity associated with this variant.
Publication data is maintained in RPS. Visit https://rps.ucl.ac.uk
 More search options
UCL Researchers Show More
Author
Institute of Ophthalmology
Author
Institute of Ophthalmology
Author
Institute of Ophthalmology
Author
Institute of Ophthalmology
Author
Institute of Ophthalmology
Author
Institute of Ophthalmology
University College London - Gower Street - London - WC1E 6BT Tel:+44 (0)20 7679 2000

© UCL 1999–2011

Search by