Cited by 191Retinal Diseases and TreatmentsRetinal Development and DisordersRetinal Imaging and Analysis

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Mutation in a short-chain collagen gene, CTRP5 , results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration

Hayward, Caroline, Shu, Xinhua, Cideciyan, Artur V., Lennon, Alan, Barran, Perdita, Zareparsi, Sepideh, Sawyer, Lindsay, Hendry, Grace, Dhillon, Baljean, Milam, Ann H., Luthert, Philip J., Swaroop, Anand, Hastie, Nicholas D., Jacobson, Samuel G., Wright, Alan F.·2003·Human Molecular Genetics

DOI 10.1093/hmg/ddg289

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Abstract

A primary feature of age-related macular degeneration (AMD) is the presence of extracellular deposits between the retinal pigment epithelium (RPE) and underlying Bruch's membrane, leading to RPE dysfunction, photoreceptor death and severe visual loss. AMD accounts for about 50% of blind registrations in Western countries and is a common, genetically complex disorder. Very little is known regarding its molecular basis. Late-onset retinal degeneration (L-ORD) is an autosomal dominant disorder with striking clinical and pathological similarity to AMD. Here we show that L-ORD is genetically heterogeneous and that a proposed founder mutation in the CTRP5 (C1QTNF5) gene, which encodes a novel short-chain collagen, changes a highly conserved serine to arginine (Ser163Arg) in 7/14 L-ORD families and 0/1000 control individuals. The mutation occurs in the gC1q domain of CTRP5 and results in abnormal high molecular weight aggregate formation which may alter its higher-order structure and interactions. These results indicate a novel disease mechanism involving abnormal adhesion between RPE and Bruch's membrane.

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Self-citation

Authors: Hayward, C., Shu, X., Cideciyan, A. V., Lennon, A., Barran, P., Zareparsi, S., Sawyer, L., Hendry, G., Dhillon, B., Milam, A. H., Luthert, P. J., Swaroop, A., Hastie, N. D., Jacobson, S. G., & Wright, A. F.
Affiliations: Western General Hospital (GB)
University of Pennsylvania (US)
University of Michigan (US)
University College London (GB)
ORCID: Hayward, Caroline
Shu, Xinhua
Cideciyan, Artur V.
Barran, Perdita
Sawyer, Lindsay
Dhillon, Baljean
Luthert, Philip J.
Swaroop, Anand
Hastie, Nicholas D.
Jacobson, Samuel G.
Venue: Human Molecular Genetics
Publisher: Oxford University Press (OUP)
Published: 2003-10-15
Volume: 12
Issue: 20
Pages: 2657-2667
ISSN: 0964-6906 (ISSN-L)
1460-2083
DOI: 10.1093/hmg/ddg289
OpenAlex: W2101414552
Cited by: 191
References: 30
Citations by year: 2026: 4 · 2025: 9 · 2024: 5 · 2023: 11 · 2022: 6 · 2021: 11 · 2020: 9 · 2019: 8 · 2018: 10 · 2017: 6 · 2016: 10 · 2015: 7 · 2014: 13 · 2013: 5 · 2012: 14
FWCI: 8.20
Type: journal article
Language: en
Open access: closed
Locations: Human Molecular Genetics (publishedVersion)
PubMed (publishedVersion)
ResearchOnline (Glasgow Caledonian University) (acceptedVersion)
UCL Discovery (University College London) (submittedVersion)
Funders: National Eye Institute (EY-13203, EY 13729, U10EY013729, EY13385, R01EY013203, R01EY013385)
Topics: Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Retinal Imaging and Analysis
Keywords: CTRP5, late-onset retinal degeneration, age-related macular degeneration, retinal pigment epithelium, Bruch's membrane, founder mutation, genetic heterogeneity, protein aggregation, autosomal dominant inheritance
MeSH terms: Aged, Aged, 80 and over, Aging, Amino Acid Sequence, Chromosome Mapping, Collagen, Female, Genetic Markers, Haplotypes, Humans, Immunohistochemistry, Macular Degeneration, Male, Middle Aged, Models, Genetic, Models, Molecular, Molecular Sequence Data, Mutation, Pedigree, Phenotype, Retina, Retinal Degeneration, Time Factors, Blotting, Western, Sequence Homology, Amino Acid, Protein Structure, Tertiary, Age of Onset

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Mutation in a short-chain collagen gene, CTRP5 , results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration

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