Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the japanese population

PLoS ONE

Volumn 7, Issue 2, 2012, Pages

  Hosono, Katsuhiro ^a   Ishigami, Chie ^b   Takahashi, Masayo ^b   Park, Dong Ho ^c   Hirami, Yasuhiko ^d   Nakanishi, Hiroshi ^a   Ueno, Shinji ^e   Yokoi, Tadashi ^f   Hikoya, Akiko ^a   Fujita, Taichi ^a   Zhao, Yang ^a   Nishina, Sachiko ^f   Shin, Jae Pil ^c   Kim, In Taek ^c   Yamamoto, Shuichi ^g   Azuma, Noriyuki ^f   Terasaki, Hiroko ^e   Sato, Miho ^a   Kondo, Mineo ^e   Minoshima, Shinsei ^a   Hotta, Yoshihiro ^a   more..

^a HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b RIKEN Center for Biosystems Dynamics Research   (Japan)

^c Kyungpook National University Hospital   (South Korea)

^d INSTITUTE OF BIOMEDICAL RESEARCH AND INNOVATION   (Japan)

^e NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^f NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^g CHIBA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARRHYTHMOGENESIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; EXON; EYES SHUT HOMOLOGY GENE; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; JAPAN; JAPANESE; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; MUTATOR GENE; POLYMERASE CHAIN REACTION; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS; AMINO ACID SEQUENCE; ASIAN; CHEMISTRY; ELECTRORETINOGRAPHY; FAMILY; GENETICS; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PEDIGREE; POPULATION GENETICS; PROTEIN TERTIARY STRUCTURE; RECESSIVE GENE;

EYE PROTEIN; EYS PROTEIN, HUMAN;

ALLELES; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EYE PROTEINS; FAMILY; FEMALE; GENES, RECESSIVE; GENETICS, POPULATION; HUMANS; JAPAN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; RETINITIS PIGMENTOSA;

EID: 84857172787     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0031036     Document Type: Article

References (17)

1. Abd El-Aziz MM, Barragán I, O'Driscoll CA, Goodstadt L, Prigmore E, et al. (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, et al. (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, Barragán I, El-Ashry MF, et al. (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-Saïd S, Lancelot ME, Antonio A, et al. (2010) EYS is a major gene for rod-cone dystrophies in France. Hum Mutat 31: E1406-1435.
5. Barragán I, Borrego S, Pieras JI, González-del Pozo M, Santoyo J, et al. (2010) Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. Hum Mutat 31: E1772-1800.
6. Littink KW, van den Born LI, Koenekoop RK, Collin RW, Zonneveld MN, et al. (2010) Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype. Ophthalmology 117: 2026-2033.
7. Hotta Y, Shiono T, Hayakawa M, Hashimoto T, Kanai A, et al. (1992) Molecular biological study of the rhodopsin gene in Japanese patients with autosomal dominant retinitis pigmentosa. Nihon Ganka Gakkai Zasshi 96: 237-242.
8. Jin ZB, Mandai M, Yokota T, Higuchi K, Ohmori K, et al. (2008) Identifying pathogenic genetic background of simplex or multiplex retinitis pigmentosa patients: a large scale mutation screening study. J Med Genet 45: 465-472.
9. Rivolta C, Sweklo EA, Berson EL, Dryja TP, (2000) Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am J Hum Genet 66: 1975-1978.
10. Seyedahmadi BJ, Rivolta C, Keene JA, Berson EL, Dryja TP, (2004) Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. Exp Eye Res 79: 167-173.
11. Hartong DT, Berson EL, Dryja TP, (2006) Retinitis pigmentosa. Lancet 368: 1795-1809.
12. Bandah-Rozenfeld D, Littink KW, Ben-Yosef T, Strom TM, Chowers I, et al. (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.
13. Huang Y, Zhang J, Li C, Yang G, Liu M, et al. (2010) Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa. BMC Med Genet 11: 121.
14. Khan MI, Collin RW, Arimadyo K, Micheal S, Azam M, et al. (2010) Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa. Mol Vis 16: 2753-2759.
15. Pieras JI, Barragán I, Borrego S, Audo I, González-Del Pozo M, et al. (2011) Copy-number variations in EYS: a significant event in the appearance of arRP. Invest Ophthalmol Vis Sci 52: 5625-5631.
16. Dreyer B, Tranebjaerg L, Brox V, Rosenberg T, Möller C, et al. (2001) A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. Am J Hum Genet 69: 228-234.
17. Hayakawa M, Fujiki K, Kanai A, Matsumura M, Honda Y, et al. (1997) Multicenter genetic study of retinitis pigmentosa in Japan: I. Genetic heterogeneity in typical retinitis pigmentosa. Jpn J Ophthalmol 41: 1-6.