A 6-GENERATION FAMILY WITH AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA AND A RHODOPSIN GENE MUTATION (ARGININE-135-LEUCINE)

被引：26

作者：

ANDREASSON, S

EHINGER, B

ABRAHAMSON, M

FEX, G

机构：

[1] Department of Ophthalmology, Lund University Hospital, Lund

[2] Department of Clinical Chemistry, Lund University Hospital, Lund

来源：

OPHTHALMIC PAEDIATRICS AND GENETICS | 1992年 / 13卷 / 03期

关键词：

FULL-FIELD ELECTRORETINOGRAM; AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA; RHODOPSIN; ARG-135-LEU MUTATION; POLYMERASE CHAIN REACTION;

D O I：

10.3109/13816819209046483

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

This study documents the ophthalmological findings in a six-generation Swedish family with autosomal dominant retinitis pigmentosa with a previously unknown rhodopsin, exon 2, mutation, Arg-135-Leu (CGG to CTG). Six affected patients from the family were available for analysis and were all found to be heterozygous for the mutation, whereas eight clinically normal family members and 29 unrelated normal individuals did not have it. The disease appears to be of a type with comparatively rapid progression to blindness.

引用

页码：145 / 153

页数：9

共 19 条

[1]

Dryja T.P., McGee T.L., Reichel E., Hahn L.B., Cowley G.S., Yandell D.W., Et al., A point mutation of the rhodopsin gene in one form of retinitis pigmentosa, Nature, 343, pp. 364-366, (1990)

[2]

Sung C.H., Davenport C.M., Hennessey J.C., Maumenee I.H., Jacobson S.G., Heckenlively, Et al., Rhodopsin mutations in autosomal dominant retinitis pigmentosa, Proc Natl Acad Sci USA, 88, pp. 6481-6486, (1991)

[3]

Dryja T.P., Hahn L.B., Cowley G.S., McGee T.L., Berson E.L., Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa, Proc Natl Acad Sci USA, 88, pp. 9370-9374, (1991)

[4]

Berson E.L., Rosner B., Sandberg M.A., Weigel-DiFranco C., Dryja T.P., Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine, Am J Ophthalmol, 111, pp. 614-623, (1991)

[5]

Heckenlively J.R., Rodriguez J.A., Daiger S.P., Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin, Arch Ophthalmol, 109, pp. 84-91, (1991)

[6]

Berson E.L., Rosner B., Sandberg M.A., Dryja T.P., Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His), Arch Ophthalmol, 109, pp. 92-101, (1991)

[7]

Fishman G.A., Stone E.M., Gilbert L.D., Kenna P., Sheffield V.C., Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa, Arch Ophthalmol, 119, pp. 1387-1393, (1991)

[8]

Jacobson S., Kemp C.M., Sung C., Nathans J., Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations, Am J Ophthalmol, 112, pp. 256-271, (1991)

[9]

Stone E.M., Kimura A.E., Nichols B.E., Khadivi P., Fishman G., Sheffield V.C., Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene, Ophthalmology, 98, pp. 1806-1813, (1991)

[10]

Fishman G.A., Stone E.M., Sheffield V.C., Gilbert L.D., Kimura A.E., Ocular findings associated with rhodopsin gene codon 17 and codon 182 transition mutations in dominant retinitis pigmentosa, Arch Ophthalmol, 110, pp. 54-62, (1992)

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