Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis
American Journal of Human Genetics, Volume 77, No. 3, Year 2005
Notification
URL copied to clipboard!
Description
Spondyloepiphyseal dysplasia (SED) encompasses a heterogeneous group of disorders characterized by shortening of the trunk and limbs. The autosomal dominant SED type Kimberley (SEDK) is associated with premature degenerative arthropathy and has been previously mapped in a multigenerational family to a novel locus on 15q26.1. This locus contains the gene AGC1, which encodes aggrecan, the core protein of the most abundant proteoglycan of cartilage. We screened AGC1 for mutations and identified a single-base-pair insertion, within the variable repeat region of exon 12 in affected individuals from the family with SEDK, that introduces a frameshift of 212 amino acids, including 22 cysteine residues, followed by a premature stop codon. This is the first identification of an AGC1 mutation causing a human disorder. This finding extends the spectrum of mutated genes that may cause SED and thus will aid in the molecular delineation of this complex group of conditions. © 2005 by The American Society of Human Genetics. All rights reserved.
Authors & Co-Authors
Gleghorn, Lindsay J.
United Kingdom, Manchester
Wellcome Trust Centre for Cell-matrix Research
Ramesar, Rajkumar S.
South Africa, Cape Town
University of Cape Town
Beighton, Peter H.
South Africa, Cape Town
University of Cape Town
Wallis, Gillian A.
United Kingdom, Manchester
Wellcome Trust Centre for Cell-matrix Research
United Kingdom, Manchester
The University of Manchester
Statistics
Citations: 143
Authors: 4
Affiliations: 3
Identifiers
Doi:
10.1086/444401
ISSN:
00029297
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health