Description:
RETINITIS PIGMENTOSA 4; RP4
RHODOPSIN; RHO RETINITIS PIGMENTOSA, RHODOPSIN-RELATED, INCLUDED
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Ophthalmologic Disorders |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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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 |
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| 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). |
| 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)] |
| 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 |
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