A novel peripherin/RDS mutation resulting in a retinal dystrophy with phenotypic variation

被引：4
|
作者：
Kalyanasundaram, T. S. [1 ]
Black, G. C. [1 ]
O'Sullivan, J. [1 ]
Bishop, P. N. [1 ]
机构：
[1] Manchester Royal Eye Hosp, Dept Ophthalmol, Manchester M13 9WH, Lancs, England
来源：
EYE | 2009年 / 23卷 / 01期
关键词：
RETINITIS-PIGMENTOSA; GENE;
D O I：
10.1038/eye.2008.33
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
引用
收藏
页码：237 / 239
页数：4
相关论文
共 50 条
  • [21] Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene
    Hoyng, CB
    Heutink, P
    Testers, L
    Pinckers, A
    Deutman, AF
    Oostra, BA
    AMERICAN JOURNAL OF OPHTHALMOLOGY, 1996, 121 (06) : 623 - 629
  • [22] A novel mutation in the RDS gene in an Italian family with pattern dystrophy
    Testa, F
    Marini, V
    Rossi, S
    Interlandi, E
    Nesti, A
    Rinaldi, M
    Varano, M
    Garré, C
    Simonelli, F
    Marini, V
    Garré, C
    Varano, M
    BRITISH JOURNAL OF OPHTHALMOLOGY, 2005, 89 (08) : 1066 - 1068
  • [23] Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies
    Budu
    Hayasaka, S
    Matsumoto, M
    Yamada, T
    Zhang, XY
    Hayasaka, Y
    JAPANESE JOURNAL OF OPHTHALMOLOGY, 2001, 45 (04) : 355 - 358
  • [24] RETINAL PATTERN DYSTROPHY ASSOCIATED WITH A 4 BP INSERTION AT CODON-140 IN THE RDS-PERIPHERIN GENE
    KEEN, TJ
    INGLEHEARN, CF
    KIM, R
    BIRD, AC
    BHATTACHARYA, S
    HUMAN MOLECULAR GENETICS, 1994, 3 (02) : 367 - 368
  • [25] Founder effect, seen in the British population, of the 172 peripherin/RDS mutation -: and further refinement of genetic positioning of the peripherin/RDS gene
    Payne, AM
    Downes, SM
    Bessant, DAR
    Bird, AC
    Bhattacharya, SS
    AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (01) : 192 - 195
  • [26] Macular dystrophy associated with monogenic ARG172TRP mutation of the peripherin RDS gene in a Japanese family
    Nakazawa, M
    Wada, Y
    Tamai, M
    RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 1995, 15 (06): : 518 - 523
  • [27] The R172W mutation in peripherin/rds causes a cone-rod dystrophy in transgenic mice
    Ding, XQ
    Nour, M
    Ritter, LM
    Goldberg, AFX
    Fliesler, SJ
    Naash, MI
    HUMAN MOLECULAR GENETICS, 2004, 13 (18) : 2075 - 2087
  • [28] The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene
    Boon, Carniel J. F.
    den Hollander, Anneke I.
    Hoyng, Carel B.
    Cremers, Frans P. M.
    Klevering, B. Jeroen
    Keunen, Jan E. E.
    PROGRESS IN RETINAL AND EYE RESEARCH, 2008, 27 (02) : 213 - 235
  • [29] PHENOTYPIC VARIATION INCLUDING RETINITIS-PIGMENTOSA, PATTERN DYSTROPHY, AND FUNDUS FLAVIMACULATUS IN A SINGLE-FAMILY WITH A DELETION OF CODON 153 OR 154 OF THE PERIPHERIN/RDS GENE
    WELEBER, RG
    CARR, RE
    MURPHEY, WH
    SHEFFIELD, VC
    STONE, EM
    ARCHIVES OF OPHTHALMOLOGY, 1993, 111 (11) : 1531 - 1542
  • [30] Analysis of the peripherin/RDS-gene in central retinal diseases
    Wissinger, B
    Preuss, S
    ChristAdler, M
    ApfelstedtSylla, E
    Kellner, U
    Zrenner, E
    VISION RESEARCH, 1996, 36 : 441 - 441
12345