Journal
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
Volume 426, Issue 4, Pages 498-503Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.bbrc.2012.08.110
Keywords
Cone-rod dystrophy; CRX; Mutation; Spectrum and frequency; Chinese
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Funding
- National Natural Science Foundation of China [81170881]
- Fundamental Research Funds of State Key Laboratory of Ophthalmology
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Mutations in the cone-rod homeobox gene (CRX) are associated with cone-rod dystrophy (CORD), Leber congenital amaurosis (LCA), and, in rare cases, retinitis pigmentosa (RP). In this study, three variations were detected in 3 of 130 families with CORD, including two novel mutations, c.239A>G (p.Glu80Gly) and c.362C>T (p.Ala121Val). So far, 49 mutations in CRX were reported, affecting about 2.35% of LCA, 4.76% of CORD, and 0.80% of RP. These mutations can be classified as missense (38.78%), nonsense (4.08%), deletion (36.73%), insertion (16.33%), and indel (4.08%). They distributed in the three coding exons without mutation hot spots. No clear genotype-phenotype correlation could be established so far. (C) 2012 Elsevier Inc. All rights reserved.
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