Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene

Documenta Ophthalmologica

Volumn 128, Issue 3, 2014, Pages 211-217

  Katagiri, Satoshi ^a,b   Akahori, Masakazu ^a   Hayashi, Takaaki ^b   Yoshitake, Kazutoshi ^c   Gekka, Tamaki ^b   Ikeo, Kazuho ^c   Tsuneoka, Hiroshi ^b   Iwata, Takeshi ^a  

^a NATIONAL HOSPITAL ORGANIZATION TOKYO MEDICAL CENTER   (Japan)

^b JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c NATIONAL INSTITUTE OF GENETICS   (Japan)

Author keywords

Cone rod dystrophy; EYS gene; Genetics; Retinitis pigmentosa; Whole exome sequencing

Indexed keywords

PROTEIN; PROTEIN EYS; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SEQUENCE; ANGIOGRAPHY DEVICE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CENTRAL SCOTOMA; CLINICAL FEATURE; ELECTRORETINOGRAM; ELECTRORETINOGRAPHY; EYE DISEASE; FLUORESCENCE ANGIOGRAPHY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; HUMAN GENOME; INTRAOCULAR PRESSURE; JAPANESE (PEOPLE); MALE; MANUAL PERIMETER; OPHTHALMOSCOPE; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PERIMETRY; PRIORITY JOURNAL; RETINA BLOOD VESSEL; RETINA CONE ROD DYSTROPHY; RETINA DEGENERATION; VISUAL ACUITY; VISUAL FIELD;

ADULT; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EYE PROTEINS; FLUORESCEIN ANGIOGRAPHY; GENES, RECESSIVE; HUMANS; MALE; MUTATION; OPHTHALMOSCOPY; PEDIGREE; RETINITIS PIGMENTOSA; SCOTOMA; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VISUAL FIELD TESTS; VISUAL FIELDS;

EID: 84900824158     PISSN: 00124486     EISSN: 15732622     Source Type: Journal    
DOI: 10.1007/s10633-014-9435-0     Document Type: Article

References (21)

1. 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 (2008) EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. Nat Genet 40:1285-1287
2. Collin RW, Littink KW, Klevering BJ, van den Born LI, Koenekoop RK, Zonneveld MN, Blokland EA, Strom TM, Hoyng CB, den Hollander AI, Cremers FP (2008) Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. Am J Hum Genet 83:594-603
3. Abd El-Aziz MM, O'Driscoll CA, Kaye RS, Barragan I, El-Ashry MF, Borrego S, Antinolo G, Pang CP, Webster AR, Bhattacharya SS (2010) Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci 51:4266-4272
4. Audo I, Sahel JA, Mohand-Said S, Lancelot ME, Antonio A, Moskova-Doumanova V, Nandrot EF, Doumanov J, Barragan I, Antinolo G, Bhattacharya SS, Zeitz C (2010) EYS is a major gene for rod-cone dystrophies in France. Hum Mutat 31:E1406-E1435
5. Bandah-Rozenfeld D, Littink KW, Ben-Yosef T, Strom TM, Chowers I, Collin RW, den Hollander AI, van den Born LI, Zonneveld MN, Merin S, Banin E, Cremers FP, Sharon D (2010) Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population. Invest Ophthalmol Vis Sci 51:4387-4394
6. Hosono K, Ishigami C, Takahashi M, Park DH, Hirami Y, Nakanishi H, Ueno S, Yokoi T, Hikoya A, Fujita T, Zhao Y, Nishina S, Shin JP, Kim IT, Yamamoto S, Azuma N, Terasaki H, Sato M, Kondo M, Minoshima S, Hotta Y (2012) Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population. PLoS ONE 7:e31036
7. Iwanami M, Oshikawa M, Nishida T, Nakadomari S, Kato S (2012) High prevalence of mutations in the EYS gene in Japanese patients with autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci 53:1033-1040
8. Hayashi T, Gekka T, Kozaki K, Ohkuma Y, Tanaka I, Yamada H, Tsuneoka H (2012) Autosomal dominant occult macular dystrophy with an RP1L1 mutation (R45W). Optom Vis Sci 89:684-691
9. Katagiri S, Yoshitake K, Akahori M, Hayashi T, Furuno M, Nishino J, Ikeo K, Tsuneoka H, Iwata T (2013) Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome. Mol Vis 19:2393-2406
10. Yagasaki K, Jacobson SG (1989) Cone-rod dystrophy. Phenotypic diversity by retinal function testing. Arch Ophthalmol 107:701-708 (Pubitemid 19141000)
11. Szlyk JP, Fishman GA, Alexander KR, Peachey NS, Derlacki DJ (1993) Clinical subtypes of cone-rod dystrophy. Arch Ophthalmol 111:781-788 (Pubitemid 23170590)
12. Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, Lupski JR (1997) A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 15:236-246 (Pubitemid 27098715)
13. Klevering BJ, Yzer S, Rohrschneider K, Zonneveld M, Allikmets R, van den Born LI, Maugeri A, Hoyng CB, Cremers FP (2004) Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa. Eur J Hum Genet 12:1024-1032 (Pubitemid 39600130)
14. Klevering BJ, Deutman AF, Maugeri A, Cremers FP, Hoyng CB (2005) The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. Graefes Arch Clin Exp Ophthalmol 243:90-100 (Pubitemid 40361630)
15. Bayes M, Goldaracena B, Martinez-Mir A, Iragui-Madoz MI, Solans T, Chivelet P, Bussaglia E, Ramos-Arroyo MA, Baiget M, Vilageliu L, Balcells S, Gonzalez-Duarte R, Grinberg D (1998) A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33. J Med Genet 35:141-145 (Pubitemid 28156517)
16. Tuson M, Marfany G, Gonzalez-Duarte R (2004) Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).AmJ Hum Genet 74:128-138 (Pubitemid 38085244)
17. Auslender N, Sharon D, Abbasi AH, Garzozi HJ, Banin E, Ben-Yosef T (2007) A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews. Invest Ophthalmol Vis Sci 48:5431-5438 (Pubitemid 351260841)
18. Ali M, Ramprasad VL, Soumittra N, Mohamed MD, Jafri H, Rashid Y, Danciger M, McKibbin M, Kumaramanickavel G, Inglehearn CF (2008) A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration. Mol Vis 14:1960-1964
19. Estrada-Cuzcano A, Neveling K, Kohl S, Banin E, Rotenstreich Y, Sharon D, Falik-Zaccai TC, Hipp S, Roepman R, Wissinger B, Letteboer SJ, Mans DA, Blokland EA, Kwint MP, Gijsen SJ, van Huet RA, Collin RW, Scheffer H, Veltman JA, Zrenner E, den Hollander AI, Klevering BJ, Cremers FP (2012) Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. Am J Hum Genet 90:102-109
20. van Huet RA, Estrada-Cuzcano A, Banin E, Rotenstreich Y, Hipp S, Kohl S, Hoyng CB, den Hollander AI, Collin RW, Klevering BJ (2013) Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene. Invest Ophthalmol Vis Sci 54:4683-4690
21. Vekslin S, Ben-Yosef T (2010) Spatiotemporal expression pattern of ceramide kinase-like in the mouse retina. Mol Vis 16:2539-2549