The novel human p.I587V variant in the ZNF644 gene is unlikely to be the pathogenic cause of dominantly inherited high myopia in a Chinese patient

Investigative Ophthalmology and Visual Science

Volumn 53, Issue 10, 2012, Pages 6728-

  Jamieson, Emily ^a   Lester, Douglas ^b  

^a Grove Academy   (United Kingdom)

^b UNIVERSITY OF ABERTAY DUNDEE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ISOLEUCINE; VALINE; DNA BINDING PROTEIN; TRANSCRIPTION FACTOR;

CHINESE; GENE; GENETIC VARIABILITY; HIGH MYOPIA; HUMAN; LETTER; MUTATION; PATHOGENICITY; PRIORITY JOURNAL; SEQUENCE ALIGNMENT; ZNF644 GENE; EXON; FEMALE; GENETICS; HUMAN GENOME; MALE; MYOPIA; NOTE;

DNA-BINDING PROTEINS; EXONS; FEMALE; GENOME, HUMAN; HUMANS; MALE; MUTATION; MYOPIA; TRANSCRIPTION FACTORS;

EID: 84871878784     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.12-10492     Document Type: Letter

References (6)

1. Shi Y, Li Y, Zhang D, et al. Exome sequencing identifies ZNF644 mutations in high myopia. PLoS Genet. 2011;7:e1002084.
2. Adzhubei IA, Schmidt S, Peshkin L. Amethod and server for predicting damagingmissensemutations. NatMethods. 2010;7:248-249.
3. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009;4:1073-1081.
4. Tummala H, Ali M, Getty P, et al. Mutation in the guanine nucleotide-binding protein beta-3 causes retinal degeneration and embryonic mortality in chickens. Invest Ophthalmol Vis Sci. 2006;47:4714-4718.
5. Ali M, Hocking PM, McKibbin M, et al. Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2011;27:7432-7440.
6. Achilli A, Iommarini L, Olivieri A, et al. Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy. PLoS One. 2012;7:e42242.