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A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency
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BACKGROUND: The Ehlers-Danlos syndrome is a heritable connective-tissue disorder caused by defects in fibrillar-collagen metabolism. Mutations in the type V collagen genes account for up to 50 percent of cases of classic Ehlers-Danlos syndrome, but many other cases are unexplained. We investigated whether the deficiency of the tenascins, extracellular-matrix proteins that are highly expressed in connective tissues, was associated with the Ehlers-Danlos syndrome. METHODS: We screened serum samples from 151 patients with the classic, hypermobility, or vascular types of the Ehlers-Danlos syndrome; 75 patients with psoriasis; 93 patients with rheumatoid arthritis; and 21 healthy persons for the presence of tenascin-X and tenascin-C by enzyme-linked immunosorbent assay. We examined the expression of tenascins and type V collagen in skin by immunohistochemical methods and sequenced the tenascin-X gene. RESULTS: Tenascin-X was present in serum from all normal subjects, all patients with psoriasis, all patients with rheumatoid arthritis, and 146 of 151 patients with the Ehlers-Danlos syndrome. Tenascin-X was absent from the serum of the 5 remaining patients with Ehlers-Danlos syndrome, who were unrelated. Tenascin-X deficiency was confirmed in these patients by analysis of skin fibroblasts and by immunostaining of skin. The expression of tenascin-C and type V collagen was normal in these patients. All five of these patients had hypermobile joints, hyperelastic skin, and easy bruising, without atrophic scarring. Tenascin-X mutations were identified in all tenascin-X-deficient patients; one patient had a homozygous tenascin-X gene deletion, one was heterozygous for the deletion, and three others had homozygous truncating point mutations, confirming a causative role for tenascin-X and a recessive pattern of inheritance. CONCLUSIONS: Tenascin-X deficiency causes a clinically distinct, recessive form of the Ehlers-Danlos syndrome. This finding indicates that factors other than the collagens or collagen-processing enzymes can cause the syndrome and suggests a central role for tenascin-X in maintaining the integrity of collagenous matrix.
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“The absence of TNX throughout the body leads to a phenotype resembling the classical type of EDS.”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Schalkwijk et al., 2001
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“Tenascin-X deficiency causes a clinically distinct, more severe form of EDS, either with or without associated 21-hydroxylase deficiency (405).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [405]
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“Complete tenascinX de fi ciency has been reported to cause classic EDS (Online Mendelian Inheritance in Man number 130000) in an autosomal recessive manner, 9 whereas the most prevalent type of hypermobile EDS is associated with defects in tenascin-X in an autosomal dominant manner. 10,12,13”
From High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia. (2019) · cites this paper as [9]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
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“The serum tenascin-X test based on enzyme-linked immunosorbent assay has been used to identify complete de fi ciency, but it is not accurate in identifying heterozygous forms and is not commercially available for general practice. 9,10”
From High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia. (2019) · cites this paper as [9]
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“Hypermobility-type EDS, the most common type of EDS, has been associated with TNXB defects, but the etiology is mostly unknown. 9”
From High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia. (2019) · cites this paper as [9]
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“Patients with clEDS are completely depleted of the TNX protein in serum.”
From The 2017 international classification of the Ehlers–Danlos syndromes (2017) · cites this paper as Schalkwijk et al., 2001
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“The authors concluded that the TNX-deficient type is very similar to the classical type of EDS with two major differences: (1) No atrophic scarring was apparent, and (2) the inheritance pattern was autosomal recessive.”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Schalkwijk et al. [2001]
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“They detected a complete TNX deficiency in five EDS patients and three affected siblings (one of which with the contiguous gene syndrome).”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Schalkwijk et al. [2001]
In the citing paper
“Despite the significant advances in molecular genetic techniques, attempts to disclose the genetic cause(s) of hEDS have been so far inconclusive.”
From Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes (2019) · cites this paper as [112]
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“Several studies struggled to define its genetic etiology but without compelling evidence, corroborating the hypothesis of a high genetic heterogeneity of the condition [112,113,114,115].”
From Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes (2019) · cites this paper as [112]
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Metadata
- Authors
- Schalkwijk, J., Zweers, M. C., Steijlen, P. M., Dean, W. B., Taylor, G., van Vlijmen, I. M., van Haren, B., Miller, W. L., & Bristow, J.
- Affiliations
- University of California, San Francisco (US)
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2001-10-18
- Volume
- 345
- Issue
- 16
- Pages
- 1167-1175
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2046338893
- Semantic Scholar
- fb524f34abb89b504a157e8b181849e317576e8b
- Cited by
- 391
- References
- 36
- Citations by year
- 2026: 7 · 2025: 11 · 2024: 9 · 2023: 8 · 2022: 16 · 2021: 15 · 2020: 20 · 2019: 22 · 2018: 11 · 2017: 11 · 2016: 13 · 2015: 20 · 2014: 17 · 2013: 21 · 2012: 17
- FWCI
- 9.28
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion, other-oa)
- Funders
- National Institutes of Health (5k08hl002695-02, 5r01dk042154-09)
- National Heart, Lung, and Blood Institute (HL 02695)
- National Institute of Diabetes and Digestive and Kidney Diseases (DK-37922, DK 42154, R01DK037922)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Skin and Cellular Biology Research
- Keywords
- Ehlers-Danlos syndrome, recessive inheritance, connective tissue diseases, tenascin-C, type V collagen, extracellular matrix proteins, joint hypermobility, dermal fibroblasts, gene deletion
- MeSH terms
- Arthritis, Rheumatoid, DNA Mutational Analysis, Ehlers-Danlos Syndrome, Female, Genes, Recessive, Humans, Male, Pedigree, Psoriasis, Reference Values, Skin, Gene Deletion, Point Mutation, Tenascin
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