Study of p.N247S KERA mutation in a British family with cornea plana

Molecular Vision

Volumn 13, Issue , 2007, Pages 1339-1347

  Liskova, Petra ^a,b,c   Hysi, Pirro G ^d,e   Williams, Denise ^f   Ainsworth, John R ^g   Shah, Sunil ^h   de la Chapelle, Albert ⁱ   Tuft, Stephen J ^b   Bhattacharya, Shomi S ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c General Teaching Hospital and 1st Medical Faculty of Charles University   (Czech Republic)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^g BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^h CITY HOSPITAL   (United Kingdom)

ⁱ OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE; KERATOCAN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CONTROLLED STUDY; CORNEA DISEASE; FAMILY STUDY; FEMALE; FINLAND; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC SCREENING; GENOME ANALYSIS; HAPLOTYPE; HOMOZYGOSITY; HUMAN; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; UNITED KINGDOM;

EID: 34547578467     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (21)

1. Forsius H, Damsten M, Eriksson AW, Fellman J, Lindh S, Tahvanainen E. Autosomal recessive cornea plana. A clinical and genetic study of 78 cases in Finland. Acta Ophthalmol Scand 1998; 76:196-203.
2. Sigler-Villanueva A, Tahvanainen E, Lindh S, Dieguez-Lucena J, Forsius H. Autosomal dominant cornea plana: clinical findings in a Cuban family and a review of the literature. Ophthalmic Genet 1997; 18:55-62.
3. Tahvanainen E, Forsius H, Karila E, Ranta S, Eerola M, Weissenbach J, Sistonen P, de la Chapelle A. Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis. Genomics 1995; 26:290-3.
4. Pellegata NS, Dieguez-Lucena JL, Joensuu T, Lau S, Montgomery KT, Krahe R, Kivela T, Kucherlapati R, Forsius H, de la Chapelle A. Mutations in KERA, encoding keratocan, cause cornea plana. Nat Genet 2000; 25:91-5.
5. Tahvanainen E, Villanueva AS, Forsius H, Salo P, de la Chapelle A. Dominantly and recessively inherited cornea plana congenita map to the same small region of chromosome 12. Genome Res 1996; 6:249-54.
6. Tahvanainen E, Forsius H, Kolehmainen J, Damsten M, Fellman J, de la Chapelle A. The genetics of cornea plana congenita. J Med Genet 1996; 33:116-9.
7. Tasheva ES, Funderburgh JL, Funderburgh ML, Corpuz LM, Conrad GW. Structure and sequence of the gene encoding human keratocan. DNA Seq 1999; 10:67-74.
8. Liu CY, Birk DE, Hassell JR, Kane B, Kao WW. Keratocan-deficient mice display alterations in corneal structure. J Biol Chem 2003; 278:21672-7.
9. Lehmann OJ, El-ashry MF, Ebenezer ND, Ocaka L, Francis PJ, Wilkie SE, Patel RJ, Ficker L, Jordan T, Khaw PT, Bhattacharya SS. A novel keratocan mutation causing autosomal recessive cornea plana. Invest Ophthalmol Vis Sci 2001; 42:3118-22.
10. Ebenezer ND, Patel CB, Hariprasad SM, Chen LL, Patel RJ, Hardcastle AJ, Allen RC. Clinical and molecular characterization of a family with autosomal recessive cornea plana. Arch Ophthalmol 2005; 123:1248-53.
11. Khan A, Al-Saif A, Kambouris M. A novel KERA mutation associated with autosomal recessive cornea plana. Ophthalmic Genet 2004; 25:147-52. Erratum in: Ophthalmic Genet. 2004; 25:289.
12. Khan AO, Aldahmesh M, Al-Saif A, Meyer B. Pellucid marginal degeneration coexistent with cornea plana in one member of a family exhibiting a novel KERA mutation. Br J Ophthalmol 2005; 89:1538-40.
13. Khan AO, Aldahmesh M, Meyer B. Recessive cornea plana in the Kingdom of Saudi Arabia. Ophthalmology 2006; 113:1773-8.
14. Khan AO, Aldahmesh M, Meyer B. Corneal ectasia and hydrops in a patient with autosomal recessive cornea plana. Ophthalmic Genet 2006; 27:99-101.
15. Stephens M, Donnelly R A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 2003; 73:1162-9.
16. Felsenstein J. PHYLIP - Phylogeny Inference Package (Version 3.2). Seattle: University of Washington; 1989. p. 164-6.
17. Sabeti PC, Reich DE, Higgins JM, Levine HZ, Richter DJ, Schaffner SF, Gabriel SB, Platko J V, Patterson NJ, McDonald GJ, Ackerman HC, Campbell SJ, Altshuler D, Cooper R, Kwiatkowski D, Ward R, Lander ES. Detecting recent positive selection in the human genome from haplotype structure. Nature 2002; 419:832-7.
18. Sabeti PC, Schaffner SF, Fry B, Lohmueller J, Varilly P, Shamovsky O, Palma A, Mikkelsen TS, Altshuler D, Lander ES. Positive natural selection in the human lineage. Science 2006; 312:1614-20.
19. Zhang C, Bailey DK, Awad T, Liu G, Xing G, Cao M, Valmeekam V, Retief J, Matsuzaki H, Taub M, Seielstad M, Kennedy GC. A whole genome long-range haplotype (WGLRH) test for detecting imprints of positive selection in human populations. Bioinformatics 2006; 22:2122-8.
20. Payseur BA, Cutter AD, Nachman MW. Searching for evidence of positive selection in the human genome using patterns of microsatellite variability. Mol Biol Evol 2002; 19:1143-53.
21. Biswas S, Akey JM. Genomic insights into positive selection. Trends Genet 2006; 22:437-46.