A novel missense mutation in the NYX gene associated with high myopia
Version of Record online: 14 FEB 2013
Ophthalmic & Physiological Optics © 2013 The College of Optometrists
Ophthalmic and Physiological Optics
Special Issue: Understanding & Controlling Myopia - Where We Are Now. A compilation to honour the research achievements and mark the passing of Josh Wallman
Volume 33, Issue 3, pages 346–353, May 2013
How to Cite
A novel missense mutation in the NYX gene associated with high myopia. Ophthalmic Physiol Opt 2013, 33: 346–353. doi: 10.1111/opo.12036, , , , , , , , , , & .
- Issue online: 12 MAY 2013
- Version of Record online: 14 FEB 2013
- Manuscript Accepted: 15 JAN 2013
- Manuscript Received: 3 NOV 2012
- The Hong Kong Polytechnic University. Grant Numbers: G-U583, J-BB7P
- congenital stationary night blindness;
- high myopia;
- missense mutation;
Myopia is a complex eye disorder. The X-linked form of complete congenital stationary night blindness (CSNB1A) is usually associated with moderate to high myopia, and is caused by mutations in the NYX gene. We explored if NYX mutations could be associated with high myopia, but not CSNB1A.
The coding regions of the NYX gene were sequenced for 204 Chinese males with high myopia (−8.00 dioptres or worse for both eyes). The frequencies of any sequence variations identified were determined in 200 Chinese males without myopia. Electro-oculography, electroretinography and standard cone function tests were performed on a male high myope carrying a mutation.
A missense mutation (c.529_530GC>AT or p.Ala177Met) was identified in one male subject with high myopia, but not in 200 male emmetropes. Neither was this variant found in any of the 529 male and 567 female subjects of various ethnic backgrounds whose genome sequences are documented in the 1000 Genomes Project database. The mutation was predicted to affect the protein function. From ocular electrophysiological tests, the proband was found to have normal rod function, but mildly abnormal cone function and inner retina function. He did not seem to suffer from CSNB1A.
One novel missense NYX mutation was identified in an adult male presented with high myopia, but without the major electrophysiological features normally associated with CSNB1A. NYX gene mutations may be considered as one of the rare genetic risk factors for high myopia without key features of CSNB1A.