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NA11031 DNA from LCL

Description:

RETINITIS PIGMENTOSA 4; RP4
RHODOPSIN; RHO RETINITIS PIGMENTOSA, RHODOPSIN-RELATED, INCLUDED

Affected:

Yes

Sex:

Female

Age:

54 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Ophthalmologic Disorders
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Son is also affected; dominant sector RP; 20 year history of photosensitivity; subnormal photopic ERG; inferior & nasal retinal degeneration with sparse pigmentation; C to A transversion in exon 1, codon 23, of the RHO (rhodopsin) gene [Pro23His (P23H)]

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Gene RHO
Chromosomal Location 3q21-q24
Allelic Variant 1 180380.0001; RETINITIS PIGMENTOSA 4
Identified Mutation PRO23HIS; Dryja et al. [New Eng. J. Med. 323:1302 (1990)] were prompted to study the rhodopsin gene is cases of retinitis pigmentosa because the gene maps to the sane region of 3q where a form of retinitis pigmentosa was found to map in an Irish kindred (180100) and because rhodopsin is expressed in rod photoreceptors that are affected early in retinitis pigmentosa. In 17 of 148 unrelated patients and none of 102 unaffected individuals, Dryja et al. [New Eng. J. Med. 323:1302 (1990)] found a C-to-A transversion in codon 23 (corresponding to a proline-to-histidine substitution).

Phenotypic Data

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Remarks Son is also affected; dominant sector RP; 20 year history of photosensitivity; subnormal photopic ERG; inferior & nasal retinal degeneration with sparse pigmentation; C to A transversion in exon 1, codon 23, of the RHO (rhodopsin) gene [Pro23His (P23H)]

Publications

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Heckenlively JR, Rodriguez JA, Daiger SP, Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin. Arch Ophthalmol109:84-91 1991
PubMed ID: 1987955

External Links

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dbSNP dbSNP ID: 17509
Gene Cards RHO
Gene Ontology GO:0005887 integral to plasma membrane
GO:0007186 G-protein coupled receptor protein signaling pathway
GO:0007601 visual perception
GO:0007603 phototransduction, visible light
GO:0008020 G-protein coupled photoreceptor activity
GO:0016056 rhodopsin mediated signaling
NCBI Gene Gene ID:6010
NCBI GTR 180380 RHODOPSIN; RHO
613731 RETINITIS PIGMENTOSA 4; RP4
OMIM 180380 RHODOPSIN; RHO
613731 RETINITIS PIGMENTOSA 4; RP4
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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How to Order
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