Tenascin-X: a candidate gene for benign joint hypermobility syndrome and hypermobility type Ehlers-Danlos syndrome?

The level of serum tenascin-X probably reflects the rate of tenascin-X synthesis in the connective tissues, because subjects who are heterozygous for a tenascin-X null allele express about half of the normal level in their serum. 6 Clinically, tenascin-X haploinsufficient subjects show generalised j...

Full description

Saved in:
Bibliographic Details
Published in:Annals of the rheumatic diseases 2005-03, Vol.64 (3), p.504-505
Main Authors: Zweers, M C, Kucharekova, M, Schalkwijk, J
Format: Article
Language:English
Subjects:
Biological and medical sciences
Biomarkers - blood
Confidence intervals
connective tissue disorders
Diagnosis, Differential
Ehlers-Danlos syndrome
Ehlers-Danlos Syndrome - blood
Ehlers-Danlos Syndrome - genetics
Female
Genetic Predisposition to Disease
Humans
joint hypermobility
Joint Instability - blood
Joint Instability - genetics
Letter
Male
Marfan syndrome
Medical sciences
Mutation
Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
Tenascin - blood
Tenascin - genetics
tenascin-X
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:The level of serum tenascin-X probably reflects the rate of tenascin-X synthesis in the connective tissues, because subjects who are heterozygous for a tenascin-X null allele express about half of the normal level in their serum. 6 Clinically, tenascin-X haploinsufficient subjects show generalised joint hypermobility, arthralgia, and about 40% of them have abnormal skin. Only 0.6% of subjects would be expected to have such low tenascin-X serum values based on the normal distribution, which is significantly less than the prevalence found in this BJHS group (p
ISSN:0003-4967
1468-2060
DOI:10.1136/ard.2004.026559