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PMID: 11462243 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.

Human mutation ·Vol. 18 ·No. 2 ·2001-08-00 ·Pages 164

Simovich MJ, Miller B, Ezzeldin H, Kirkland BT, McLeod G, Fulmer C, Nathans J, Jacobson SG, Pittler SJ

Abstract

Leber congenital amaurosis (LCArpar; is a heterogeneous disorder representing the congenital forms of retinitis pigmentosa accounting for about 5% of all retinal dystrophies. The RPE65 gene product is required for regeneration of the visual pigment for phototransduction. Defects in the RPE65 gene have so far been shown to account for approximately 10 % of known cases of LCA. Here we describe four additional novel mutations in the RPE65 gene (c.889delA, c.131G>A, c.1249G>C, c.430T>G) and several novel polymorphisms in a large series of LCA patients. Hum Mutat 18:164, 2001.

MeSH Terms

Carrier Proteins DNA Mutational Analysis Exons/genetics Eye Proteins Genotype Humans Introns/genetics Molecular Sequence Data Mutation/genetics Optic Atrophy, Hereditary, Leber/genetics Polymorphism, Genetic/genetics Proteins/genetics Retinitis Pigmentosa/congenital,genetics cis-trans-Isomerases

Chemicals

Carrier Proteins Eye Proteins Proteins retinoid isomerohydrolase cis-trans-Isomerases

Authors & Affiliations

9 authors, click to expand affiliations / ORCID

Simovich M J

Department of Biochemistry & Molecular Biology, University of South Alabama College of Medicine, Mobile, AL, USA.

Miller B

Ezzeldin H

Kirkland B T

McLeod G

Fulmer C

Nathans J

Jacobson S G

Pittler S J

Article Info

Journal

Human mutation

Abbr.

Hum Mutat

ISSN

1098-1004

DOI

10.1002/humu.1168

Published

2001-08-00

Pages

164

Language

English

Region

United States

NLM ID

9215429

Subset

Grants

NEI NIH HHS · EY-013385 · United States

Databases

GENBANK

AF039855, AF039856, AF039857, AF039858, AF039859, AF039860, AF039861, AF039862, AF039863, AF039864, AF039865, AF039866, AF039867, AF039868, U20476, U20477, U20478, U20479, U20480, U20481, U20482, U20483, U20484, U20485, U20486, U20487, U20488, U20510

RefSeq

NM_000329

External Links

PubMed source DOI: 10.1002/humu.1168 View journal details

Analysis Services

Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.

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