De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa

Sharon B Schwartz; Tomas S Aleman; Artur V Cideciyan; Anand Swaroop; Samuel G Jacobson; Edwin M Stone

doi:10.1167/iovs.03-0155

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De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa

Journal article

Peer reviewed

De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa

Sharon B Schwartz, Tomas S Aleman, Artur V Cideciyan, Anand Swaroop, Samuel G Jacobson and Edwin M Stone

Investigative ophthalmology & visual science, Vol.44(8), pp.3593-3597

08/2003

DOI: 10.1167/iovs.03-0155

PMID: 12882812

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Abstract

The Arg677ter mutation in the RP1 gene is one of the most common causes of autosomal dominant retinitis pigmentosa (RP). In the current study, a de novo Arg677ter RP1 gene mutation was identified in a patient with RP. RP1 gene mutation screening was performed in probands with simplex RP. In one proband with the RP1 mutation, paternity was established by analyzing 24 short tandem repeat polymorphisms. Additional candidate RP genes, including rhodopsin, RDS/peripherin, RP2, and RPGR, were also examined in this proband. Phenotype was characterized with psychophysics, electroretinography, and optical coherence tomography. An RP1 (Arg677ter) mutation was identified in one of the patients with simplex RP, but the sequence change was not detected in his parents. Parentage was confirmed, and other candidate genes were negative for mutations. Retinal function and cross-sectional imaging studies in the patient indicated greater rod than cone dysfunction with a photoreceptor basis for the abnormalities. The de novo origin of an RP1 (Arg677ter) mutation in a patient with simplex RP suggests that this common autosomal dominant RP mutation can arise independently in the population and supports the hypothesis of a mutational hotspot in the RP1 gene.

Electroretinography

Humans

Retinitis Pigmentosa - genetics

Male

Tandem Repeat Sequences

Psychophysics

Retinitis Pigmentosa - diagnosis

Retina - physiology

Point Mutation

DNA Mutational Analysis

Pedigree

Visual Fields

Light

Tomography

Adult

Female

Polymorphism, Genetic - genetics

Eye Proteins - genetics

Retinitis Pigmentosa - physiopathology

Interferometry

Details

Title: Subtitle: De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa
Creators: Sharon B Schwartz - Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, USA
Tomas S Aleman
Artur V Cideciyan
Anand Swaroop
Samuel G Jacobson
Edwin M Stone
Resource Type: Journal article
Publication Details: Investigative ophthalmology & visual science, Vol.44(8), pp.3593-3597
DOI: 10.1167/iovs.03-0155
PMID: 12882812
NLM abbreviation: Invest Ophthalmol Vis Sci
ISSN: 0146-0404
eISSN: 1552-5783
Publisher: United States
Grant note: EY-13729 / NEI NIH HHS EY-13385 / NEI NIH HHS EY-13203 / NEI NIH HHS
Language: English
Date published: 08/2003
Academic Unit: Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983979905502771

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