ELECTRONIC LETTER

Novel locus for X linked recessive high myopia maps to Xq23–q25 but outside MYP1

Q Zhang¹, X Guo¹, X Xiao¹, X Jia¹, S Li¹, J F Hejtmancik²

¹ Key Laboratory of Ophthalmology of the Ministry of Education and Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou, PR China
² Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA

Correspondence to:
Correspondence to:
Professor Qingjiong Zhang
Ophthalmic Genetics and Molecular Biology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, 54 Xianlie Road, Guangzhou 510060, PR China; qingjiongzhang{at}yahoo.com

Background: High myopia is a common genetic variation in most cases, affecting 1–2% of people, and is the fourth most common disorder causing blindness worldwide. Six autosomal dominant loci and one X-linked recessive locus have been reported, but no genes responsible for high myopia have been identified.

Objective: To report a Chinese family in which six males presented with high myopia consistent with an X linked recessive trait.

Results: Affected individuals shared three common features: high myopia, reduced visual acuity, and fundal changes of high myopia. Protan and deutan were observed in the family, but they did not co-segregate with the high myopia phenotype. X-chromosome-wide linkage analysis mapped the high myopia locus to a 25 cM (14.9 Mb) region on Xq23–q25 between DXS1210 and DXS8057, with maximum two point lod scores at = 0 of 2.75 and 2.29 for DXS1001 and DXS8059, respectively.

Conclusions: This new myopia locus is outside the linked region of the first high myopia locus (MYP1). Refinement of the linkage region with additional families and screening candidate genes for mutation may lead to the identification of the defect gene.

Abbreviations: AMD, age related macular degeneration; ERG, electroretinogram; ISCEV, International Society for Clinical Electrophysiology of Vision

Keywords: X linked recessive high myopia; linkage; cone dysfunction; MYP1

CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

This article has been cited by other articles:

• Li, Y.-J., Guggenheim, J. A., Bulusu, A., Metlapally, R., Abbott, D., Malecaze, F., Calvas, P., Rosenberg, T., Paget, S., Creer, R. C., Kirov, G., Owen, M. J., Zhao, B., White, T., Mackey, D. A., Young, T. L. (2009). An International Collaborative Family-Based Whole-Genome Linkage Scan for High-Grade Myopia. IOVS 50: 3116-3127 [Abstract] [Full Text]  
• Wojciechowski, R., Stambolian, D., Ciner, E., Ibay, G., Holmes, T. N., Bailey-Wilson, J. E. (2009). Genomewide Linkage Scans for Ocular Refraction and Meta-analysis of Four Populations in the Myopia Family Study. IOVS 50: 2024-2032 [Abstract] [Full Text]  
• Klein, A. P., Suktitipat, B., Duggal, P., Lee, K. E., Klein, R., Bailey-Wilson, J. E., Klein, B. E. K. (2009). Heritability Analysis of Spherical Equivalent, Axial Length, Corneal Curvature, and Anterior Chamber Depth in the Beaver Dam Eye Study. Arch Ophthalmol 127: 649-655 [Abstract] [Full Text]  
• Wang, P., Li, S., Xiao, X., Jia, X., Jiao, X., Guo, X., Zhang, Q. (2009). High Myopia Is Not Associated with the SNPs in the TGIF, Lumican, TGFB1, and HGF Genes. IOVS 50: 1546-1551 [Abstract] [Full Text]  
• Black, J., Browning, S. R., Collins, A. V., Phillips, J. R. (2008). A Canine Model of Inherited Myopia: Familial Aggregation of Refractive Error in Labrador Retrievers. IOVS 49: 4784-4789 [Abstract] [Full Text]  
• Lam, C. Y., Tam, P. O. S., Fan, D. S. P., Fan, B. J., Wang, D. Y., Lee, C. W. S., Pang, C. P., Lam, D. S. C. (2008). A Genome-wide Scan Maps a Novel High Myopia Locus to 5p15. IOVS 49: 3768-3778 [Abstract] [Full Text]  
• Pertile, K. K., Schache, M., Islam, F. M. A., Chen, C. Y., Dirani, M., Mitchell, P., Baird, P. N. (2008). Assessment of TGIF as a Candidate Gene for Myopia. IOVS 49: 49-54 [Abstract] [Full Text]  
• Schache, M., Richardson, A. J., Pertile, K. K., Dirani, M., Scurrah, K., Baird, P. N. (2007). Genetic Mapping of Myopia Susceptibility Loci. IOVS 48: 4924-4929 [Abstract] [Full Text]  
• Young, T. L., Metlapally, R., Shay, A. E. (2007). Complex Trait Genetics of Refractive Error. Arch Ophthalmol 125: 38-48 [Abstract] [Full Text]  
• Klein, A. P., Duggal, P., Lee, K. E., Klein, R., Bailey-Wilson, J. E., Klein, B. E. K. (2007). Confirmation of Linkage to Ocular Refraction on Chromosome 22q and Identification of a Novel Linkage Region on 1q. Arch Ophthalmol 125: 80-85 [Abstract] [Full Text]