Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases.

Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases. Research Abstract Details 

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Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases. Abstract Text:

Carlo Rivolta,Eliot L Berson,Thaddeus P Dryja,

PURPOSE: To investigate the peropsin gene (RRH), encoding a retinal pigment epithelium homolog of the rod-expressed opsin (rhodopsin), for the presence of pathogenic mutations causing retinitis pigmentosa (RP) or other retinal degenerations. METHODS: All seven exons composing the RRH open reading frame and the immediate intron sequences were analyzed by direct nucleotide sequencing of 613 patients with forms of retinal degeneration. RESULTS: One patient with retinitis punctata albescens was a heterozygote with the missense change Cys98Tyr (TGT>TAT, c.293G>A). This change affects the homologous residue that is the target of the rhodopsin mutation Cys110Tyr, a reported cause of dominant RP. Unfortunately, none of the patient's relatives were available for a segregation analysis to determine if this change is unambiguously associated with disease. No definite pathogenic mutation was found in any of the other 612 patients who were evaluated. CONCLUSIONS: The Cys98Tyr is a possible cause of retinitis punctata albescens, although this conclusion is tentative because the change was found in only one patient. Our results indicate that the peropsin gene is not a common cause of RP or some related retinal degenerations, at least in the set of patients we analyzed.

Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases. Publishing Authors By Initials

C Rivolta,EL Berson,TP Dryja,

For similar amino acids, peptides, and proteins: amino acids: amino acids, cyclic: amino acids, aromatic: tyrosine research abstracts see: amino acids, peptides, and proteins: amino acids: amino acids, cyclic: amino acids, aromatic: tyrosine research

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Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Molecular vision

VOLUME: 12

Page Numbers: 1511-5

Journal Abbreviation: Mol. Vis.

ISSN: 1090-0535

DAY: 5

MONTH: 12

YEAR: 2006

Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases. Information

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LANGUAGE: eng

NlmUniqueID: 9605351

Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases. Keywords Mesh Terms:

KEYWORDS: Tyrosine

MESH TERMS: genetics

Chemical & Substance for Abstract: Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases. Information

Substance Name: Rhodopsin

Registry Number: 9009-81-8

Grant and Affiliation Information for Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases.

AFFILIATION: Harvard Medical School, Massachusetts Eye and Ear Infirmary, Ocular Molecular Genetics Institute and The Berman-Gund Laboratory for the Study of Retinal Degenerations, Boston, MA, USA. carlo.rivolta@unil.ch

Country: United States

AGENCY: United States NEI

GRANT: EY14104

ACRONYM: EY

MEDLINETA: Mol Vis

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