title: CRX variants in cone-rod dystrophy and mutation overview.
abstract: 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.
authors.affiliation: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China.
authors.forename: Li
authors.initials: L
authors.lastname: Huang
authors.forename: Xueshan
authors.initials: X
authors.lastname: Xiao
authors.forename: Shiqiang
authors.initials: S
authors.lastname: Li
authors.forename: Xiaoyun
authors.initials: X
authors.lastname: Jia
authors.forename: Panfeng
authors.initials: P
authors.lastname: Wang
authors.forename: Xiangming
authors.initials: X
authors.lastname: Guo
authors.forename: Qingjiong
authors.initials: Q
authors.lastname: Zhang
mesh_terms: D044466:Asian People / Q000235:genetics; D002681:China; D014644:Genetic Variation; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*; D015534:Trans-Activators / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; D015534:Trans-Activators; C109288:cone rod homeobox protein