RETINITIS-PIGMENTOSA AND RELATED DISORDERS - PHENOTYPES OF RHODOPSIN AND PERIPHERIN RDS MUTATIONS

被引:45
作者
SHASTRY, BS
机构
[1] Eye Research Institute, Oakland University, Rochester
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 52卷 / 04期
关键词
RHODOPSIN; PERIPHERIN/RDS; MUTATION; RETINITIS PIGMENTOSA; MACULAR DYSTROPHY; RETINAL DEGENERATION;
D O I
10.1002/ajmg.1320520413
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Retinitis pigmentosa comprises a group of clinically variable and genetically heterogeneous inherited disorders of the retina. It is estimated that approximately 1.5 million people throughout the world are affected by this disease. It is a slowly progressive disorder and causes loss of night vision and peripheral visual field in adolescence. It call be inherited through an autosomal dominant, recessive, or X-linked mode; the autosomal dominant form is considered to be the mildest form. Molecular genetic studies on the autosomal dominant disorder have shown that, in some families, genes encoding the rhodopsin and peripherin/RDS map very close to the disease loci identified previously by the systematic linkage analyses. These results, together with the observation that a recessive nonsense mutation in the Drosophila opsin gene causes photoreceptor degeneration, prompted an extensive search for the alterations in the human rhodopsin and peripherin/RDS genes in families with autosomal dominant retinitis pigmentosa. As a result, several distinct rhodopsin and peripherin/RDS mutations have been found in approximately 30% of all autosomal dominant cases. A wide variety of clinical expression of the disorder even within a family with the same mutation, its late onset, slow progression, and cone degeneration clearly suggest that some other factors or genes in addition to rhodopsin are responsible for the phenotypic expression of the disorder. In this article, an attempt is made to highlight some of these recent developments and to correlate the various mutations and the phenotypes. (C) 1994 Wiley-Liss, Inc.
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收藏
页码:467 / 474
页数:8
相关论文
共 76 条
[1]   OCULAR FINDINGS IN A FAMILY WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA AND A FRAMESHIFT MUTATION ALTERING THE CARBOXYL-TERMINAL SEQUENCE OF RHODOPSIN [J].
APFELSTEDTSYLLA, E ;
KUNISCH, M ;
HORN, M ;
RUTHER, K ;
GERDING, H ;
GAL, A ;
ZRENNER, E .
BRITISH JOURNAL OF OPHTHALMOLOGY, 1993, 77 (08) :495-501
[2]   MOLECULAR-BIOLOGY OF THE VISUAL PIGMENTS [J].
APPLEBURY, ML ;
HARGRAVE, PA .
VISION RESEARCH, 1986, 26 (12) :1881-+
[3]  
Berson E L, 1991, Trans Am Ophthalmol Soc, V89, P117
[4]   OCULAR FINDINGS IN PATIENTS WITH AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA AND RHODOPSIN, PROLINE-347-LEUCINE [J].
BERSON, EL ;
ROSNER, B ;
SANDBERG, MA ;
WEIGELDIFRANCO, C ;
DRYJA, TP .
AMERICAN JOURNAL OF OPHTHALMOLOGY, 1991, 111 (05) :614-623
[5]   OCULAR FINDINGS IN PATIENTS WITH AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA AND A RHODOPSIN GENE DEFECT (PRO-23-HIS) [J].
BERSON, EL ;
ROSNER, B ;
SANDBERG, MA ;
DRYJA, TP .
ARCHIVES OF OPHTHALMOLOGY, 1991, 109 (01) :92-101
[6]  
BERSON EL, 1993, INVEST OPHTH VIS SCI, V34, P1659
[7]   RETINITIS-PIGMENTOSA AND MUTATIONS IN RHODOPSIN [J].
BHATTACHARYA, S ;
LESTER, D ;
KEEN, J ;
BASHIR, R ;
LAUFFART, B ;
INGLEHEARN, CF ;
JAY, M ;
BIRD, AC .
LANCET, 1991, 337 (8734) :185-185
[8]   LINKAGE MAPPING OF AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA (RP1) TO THE PERICENTRIC REGION OF HUMAN CHROMOSOME-8 [J].
BLANTON, SH ;
HECKENLIVELY, JR ;
COTTINGHAM, AW ;
FRIEDMAN, J ;
SADLER, LA ;
WAGNER, M ;
FRIEDMAN, LH ;
DAIGER, SP .
GENOMICS, 1991, 11 (04) :857-869
[9]   PHOTORECEPTOR PERIPHERIN IS THE NORMAL PRODUCT OF THE GENE RESPONSIBLE FOR RETINAL DEGENERATION IN THE RDS MOUSE [J].
CONNELL, G ;
BASCOM, R ;
MOLDAY, L ;
REID, D ;
MCINNES, RR ;
MOLDAY, RS .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (03) :723-726
[10]   MOLECULAR-CLONING, PRIMARY STRUCTURE, AND ORIENTATION OF THE VERTEBRATE PHOTORECEPTOR CELL PROTEIN PERIPHERIN IN THE ROD OUTER SEGMENT DISK MEMBRANE [J].
CONNELL, GJ ;
MOLDAY, RS .
BIOCHEMISTRY, 1990, 29 (19) :4691-4698