Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa

Molecular Vision

Volumn 16, Issue , 2010, Pages 2753-2759

  Khan, Muhammad Imran ^a,b   Collin, Rob W J ^b,c   Arimadyo, Kentar ^b,d   Micheal, Shazia ^a   Azam, Maleeha ^a   Qureshi, Nadeem ^e   Faradz, Sultana M H ^d   den Hollander, Anneke I ^b,c   Qamar, Raheel ^a,f   Cremers, Frans P M ^a,b,c  

^a Department of Electrical Computer Engineering   (Pakistan)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d DIPONEGORO UNIVERSITY   (Indonesia)

^e AL SHIFA TRUST EYE HOSPITAL   (Pakistan)

^f SHIFA COLLEGE OF MEDICINE   (Pakistan)

Author keywords

[No Author keywords available]

Indexed keywords

LAMININ; LAMININ A; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 6Q; CLINICAL ARTICLE; CONTROLLED STUDY; EYE SHUT HOMOLOG GENE; FEMALE; GENE; GENE LOCATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOME ANALYSIS; HOMOZYGOTE; HUMAN; INDONESIA; LINKAGE ANALYSIS; MALE; MICROARRAY ANALYSIS; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PAKISTAN; PRIORITY JOURNAL; PROTEIN DOMAIN; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOME SEGREGATION; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EYE PROTEINS; FAMILY; FEMALE; FUNDUS OCULI; GENES, RECESSIVE; GENETIC LINKAGE; HUMANS; LAMIN TYPE A; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; RETINITIS PIGMENTOSA; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 78650796432     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (22)

1. Berger W, Kloeckener-Gruissem B, Neidhardt J. The molecular basis of human retinal and vitreoretinal diseases. Prog Retin Eye Res 2010; 29:335-75. [PMID: 20362068]
2. Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet 2006; 368:1795-809. [PMID: 17113430]
3. Rivolta C, Sharon D, DeAngelis MM, Dryja TP. Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum Mol Genet 2002; 11:1219-27. [PMID: 12015282]
4. Goodwin P. Hereditary retinal disease. Curr Opin Ophthalmol 2008; 19:255-62. [PMID: 18408503]
5. Pomares E, Riera M, Permanyer J, Méndez P, Castro-Navarro J, Andrés-Gutiérrez A, Marfany G, Gonzàlez-Duarte R. Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects. Eur J Hum Genet 2010; 18:118-24. [PMID: 19584904]
6. Rivolta C, Sweklo EA, Berson EL, Dryja TP. Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am J Hum Genet 2000; 66:1975-8. [PMID: 10775529]
7. Collin RWJ, Littink KW, Klevering BJ, van den Born LI, Koenekoop RK, Zonneveld MN, Blokland EAW, Strom TM, Hoyng CB, den Hollander AI, Cremers FPM. Identification of a 2 Mb human ortholog of Drosophila eyes shut/ spacemaker that is mutated in patients with retinitis pigmentosa. Am J Hum Genet 2008; 83:594-603. [PMID: 18976725]
8. Abd El-Aziz MM, Barragan I, O'Driscoll CA, Goodstadt L, Prigmore E, Borrego S, Mena M, Pieras JI, El-Ashry MF, Safieh LA, Shah A, Cheetham ME, Carter NP, Chakarova C, Ponting CP, Bhattacharya SS, Antinolo G. EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. Nat Genet 2008; 40:1285-7. [PMID: 18836446]
9. Littink KW, van den Born LI, Koenekoop RK, Collin RWJ, Zonneveld MN, Blokland EAW, Khan H, Theelen T, Hoyng CB, Cremers FPM, den Hollander AI, Klevering BJ. Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype. Ophthalmology 2010; 117:2026-33. [PMID: 20537394]
10. Abd El-Aziz MM, O'Driscoll CA, Kaye RS, Barragan I, El-Ashry MF, Borrego S, Antiñolo G, Pang CP, Webster AR, Bhattacharya SS. Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci 2010; 51:4266-72. [PMID: 20237254]
11. Bandah-Rozenfeld D, Littink KW, Ben-Yosef T, Strom TM, Chowers I, Collin RWJ, den Hollander AI, van den Born LI, Zonneveld MN, Merin S, Banin E, Cremers FPM, Sharon D. Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population. Invest Ophthalmol Vis Sci 2010; 51:4387-94. [PMID: 20375346]
12. Audo I, Sahel JA, Mohand-Saïd S, Lancelot ME, Antonio A, Moskova-Doumanova V, Nandrot EF, Doumanov J, Barragan I, Antinolo G, Bhattacharya SS, Zeitz C. EYS is a major gene for rod-cone dystrophies in France. Hum Mutat 2010; 31:E1406-35. [PMID: 20333770]
13. Marmor MF, Fulton AB, Holder GE, Miyake Y, Brigell M, Bach M. ISCEV Standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol 2009; 118:69-77. [PMID: 19030905]
14. Sambrook J, Russell DW. Molecular cloning a laboratory manual. 3rd ed. Cold Spring Harbor (NY): Cold Spring Harbor Press; 2001.
15. Hoffmann K, Lindner TH. easyLINKAGE-Plus-automated linkage analyses using large-scale SNP data. Bioinformatics 2005; 21:3565-7. [PMID: 16014370]
16. Ruiz A, Borrego S, Marcos I, Antiñolo G. A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters. Am J Hum Genet 1998; 62:1452-9. [PMID: 9585594]
17. Husain N, Pellikka M, Hong H, Klimentova T, Choe KM, Clandinin TR, Tepass U. The agrin/perlecan-related protein eyes shut is essential for epithelial lumen formation in the Drosophila retina. Dev Cell 2006; 11:483-93. [PMID: 17011488]
18. Zelhof AC, Hardy RW, Becker A, Zuker CS. Transforming the architecture of compound eyes. Nature 2006; 443:696-9. [PMID: 17036004]
19. Zacchigna S, Oh H, Wilsch-Bräuninger M, Missol-Kolka E, Jászai J, Jansen S, Tanimoto N, Tonagel F, Seeliger M, Huttner WB, Corbeil D, Dewerchin M, Vinckier S, Moons L, Carmeliet P. Loss of the cholesterol-binding protein prominin-1/CD133 causes disk dysmorphogenesis and photoreceptor degeneration. J Neurosci 2009; 29:2297-308. [PMID: 19228982]
20. Permanyer J, Navarro R, Friedman J, Pomares E, Castro-Navarro J, Marfany G, Swaroop A, Gonzàlez-Duarte R. Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1. Invest Ophthalmol Vis Sci 2010; 51:2656-63. [PMID: 20042663]
21. Sasaki T, Fässler R, Hohenester E. Laminin: the crux of basement membrane assembly. J Cell Biol 2004; 164:959-63. [PMID: 15037599]
22. Miner JH. Laminins and their roles in mammals. Microsc Res Tech 2008; 71:349-56. [PMID: 18219670]