GM11105

GM11105 LCL from B-Lymphocyte

Description:

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

Affected:

Yes

Sex:

Male

Age:

32 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Ophthalmologic Disorders

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Family Member

Relation to Proband

son

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

History of night blindness & visual field loss since age 18; RP diagnosed at age 23; barely recordable photopic ERG & nonrecordable rod-isolated & dark-adapted bright flash ERG; C to A transversion in exon 1, codon 23, of rhodopsin

Characterizations

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

Remarks

Publications

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