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Title: Linkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8q

Abstract

Calcium pyrophosphate-deposition disease (CPDD), also called {open_quotes}chondrocalcinosis{close_quotes} or {open_quotes}pseudogout{close_quotes}, is a disorder characterized by the deposition of calcium-containing crystals in joint tissue, which leads to arthritis-like symptoms. The presence of these crystals in joint tissue is a common finding in the elderly, and, in this population, there is a poor correlation with joint pain. In contrast, early-onset CPDD has been described in several large families in which the disease progresses to severe degenerative osteoarthritis (OA). In these families, an autosomal dominant mode of inheritance is observed, with an age at onset between the 2nd and 5th decades of life. In this report, we describe a large New England family with early-onset CPDD and severe degenerative OA. We found genetic linkage between the disease in this family and chromosome 8q, with a multipoint lod score of 4.06. These results suggest that a defective gene at this location causes the disease in this family. 29 refs., 2 figs., 1 tab.

Authors:
; ;  [1]; ;  [2];  [3]
  1. Boston Univ. School of Medicine, MA (United States)
  2. Thomas Jefferson Univ., Philadelphia, PA (United States)
  3. Rheumatology Associates, Portland, ME (United States)
Publication Date:
OSTI Identifier:
70446
Resource Type:
Journal Article
Journal Name:
American Journal of Human Genetics
Additional Journal Information:
Journal Volume: 56; Journal Issue: 3; Other Information: PBD: Mar 1995
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; GENES; DOMINANT MUTATIONS; PATIENTS; HEREDITARY DISEASES; RHEUMATIC DISEASES; HUMAN CHROMOSOME 8; GENETIC MAPPING; STATISTICS; PHENOTYPE; TISSUES; OLIGONUCLEOTIDES

Citation Formats

Baldwin, C.T., Farrer, L.A., Adair, R., Dharmavaram, R., Jimenez, S., and Anderson, L. Linkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8q. United States: N. p., 1995. Web.
Baldwin, C.T., Farrer, L.A., Adair, R., Dharmavaram, R., Jimenez, S., & Anderson, L. Linkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8q. United States.
Baldwin, C.T., Farrer, L.A., Adair, R., Dharmavaram, R., Jimenez, S., and Anderson, L. Wed . "Linkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8q". United States.
@article{osti_70446,
title = {Linkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8q},
author = {Baldwin, C.T. and Farrer, L.A. and Adair, R. and Dharmavaram, R. and Jimenez, S. and Anderson, L.},
abstractNote = {Calcium pyrophosphate-deposition disease (CPDD), also called {open_quotes}chondrocalcinosis{close_quotes} or {open_quotes}pseudogout{close_quotes}, is a disorder characterized by the deposition of calcium-containing crystals in joint tissue, which leads to arthritis-like symptoms. The presence of these crystals in joint tissue is a common finding in the elderly, and, in this population, there is a poor correlation with joint pain. In contrast, early-onset CPDD has been described in several large families in which the disease progresses to severe degenerative osteoarthritis (OA). In these families, an autosomal dominant mode of inheritance is observed, with an age at onset between the 2nd and 5th decades of life. In this report, we describe a large New England family with early-onset CPDD and severe degenerative OA. We found genetic linkage between the disease in this family and chromosome 8q, with a multipoint lod score of 4.06. These results suggest that a defective gene at this location causes the disease in this family. 29 refs., 2 figs., 1 tab.},
doi = {},
journal = {American Journal of Human Genetics},
number = 3,
volume = 56,
place = {United States},
year = {1995},
month = {3}
}