LCA5, a rare genetic cause of leber congenital amaurosis in Koreans

Ophthalmic Genetics

Volumn 30, Issue 1, 2009, Pages 54-55

  Seong, Moon Woo ^a   Kim, Seong Yeon ^b   Yu, Young Suk ^b   Hwang, Jeong Min ^c   Kim, Ji Yeon ^b   Park, Sung Sup ^b  

^a National Cancer Center   (South Korea)

^b Seoul National University Hospital   (South Korea)

^c Seoul National University Bundang Hospital   (South Korea)

Author keywords

Korea; LCA5; Leber congenital amaurosis; Mutational analysis

Indexed keywords

MESSENGER RNA;

ARTICLE; ASIAN; CLINICAL ARTICLE; COMPUTER MODEL; CONTROLLED STUDY; DNA FLANKING REGION; EXON; GENE; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; LEBER CONGENITAL AMAUROSIS; LEBER CONGENITAL AMAUROSIS 5 GENE; MISSENSE MUTATION; PREDICTION; PRIORITY JOURNAL; PROTEIN FUNCTION;

BLINDNESS; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; HUMANS; KOREA; MICROTUBULE-ASSOCIATED PROTEINS; MUTATION; RETINAL DEGENERATION;

EID: 61649114923     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810802592567     Document Type: Article

References (6)

1. Fazzi E, Signorini SG, Scelsa B et al. Leber's congenital amaurosis: An update. Eur J Paediatr Neurol. 2003;7(1):13-22.
2. Koenekoop RK. An overview of Leber congenital amaurosis: A model to understand human retinal development. Surv Ophthalmol. 2004;49(4):379-98.
3. Hanein S, Perrault I, Gerber S,et al. Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat. 2004;23(4):306-17.
4. Seong MW, Kim SY, Yu YS et al. Molecular characterization of Leber congenital amaurosis in Koreans. Mol Vis. 2008;14:1429-36.
5. den Hollander AI, Koenekoop RK, Mohamed MD et al. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet. 2007;39(7):889-95.
6. Gerber S, Hanein S, Perrault I et al. Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II. Hum Mutat. 2007;28(12):1245.