GM09780

GM09780 LCL from B-Lymphocyte

Description:

RETINITIS PIGMENTOSA 1; RP1
RETINITIS PIGMENTOSA 1 GENE; RP1

Affected:

Yes

Sex:

Female

Age:

31 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Retinitis Pigmentosa Foundation Collection
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

paternal cousin

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; affected father is GM09009A; mother is GM08985; affected brother is GM08993A; donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene [2029C>T] resulting in a substitution of a stop codon for arginine at codon 677 [Arg677Ter (R677X)].

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

Gene

RP1

Chromosomal Location

8q11-q13

Allelic Variant 1

603937.0001; RETINITIS PIGMENTOSA 1

Identified Mutation

ARG677TER; In a patient with autosomal dominant retinitis pigmentosa (180100), Pierce et al. (Nat Genet 22:248-254, 1999) found a C-to-T transition in exon 4 of the RP1 gene, resulting in a nonsense mutation, CGA (arg) to TGA (ter). This mutant allele, if expressed, would encode a protein of 676 amino acids, 1,480 less than the predicted wildtype RP1 protein. The mutation was first identified in the family in which Blanton et al. (Genomics 11:857-869, 1991) identified linkage to chromosome 8.

Phenotypic Data

Remarks

Publications

Pierce EA, Quinn T, Meehan T, McGee TL, Berson EL, Dryja TP, Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Nat Genet22(3):248-54 1999

PubMed ID: 10391211

Sullivan LS, Heckenlively JR, Bowne SJ, Zuo J, Hide WA, Gal A, Denton M, Inglehearn CF, Blanton SH, Daiger SP, Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa Nature genetics22:255-9 1999

PubMed ID: 10391212

Blanton SH, Heckenlively JR, Cottingham AW, Friedman J, Sadler LA, Wagner M, Friedman LH, Daiger SP, Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. Genomics11:857-69 1991

PubMed ID: 1783394

Field LL, Heckenlively JR, Sparkes RS, Garcia CA, Farson C, Zedalis D, Sparkes MC, Crist M, Tideman S, Spence MA, Linkage analysis of five pedigrees affected with typical autosomal dominant retinitis pigmentosa. J Med Genet19:266-70 1982

PubMed ID: 7120314

Heckenlively JR, Pearlman JT, Sparkes RS, Spence MA, Zedalis D, Field L, Sparkes M, Crist M, Tideman S, Possible assignment of a dominant retinitis pigmentosa gene to chromosome 1. Ophthalmic Res14:46-53 1982

PubMed ID: 6803203

Spence MA, Sparkes RS, Heckenlively JR, Pearlman JT, Zedalis D, Sparkes M, Crist M, Tideman S, Probable genetic linkage between autosomal dominant retinitis pigmentosa (RP) and amylase (AMY2): evidence of an RP locus on chromosome 1. Am J Hum Genet29:397-404 1977

PubMed ID: 879170