A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency

Schalkwijk, Joost; Zweers, Manon C.; Steijlen, Peter M.; Dean, Willow B.; Taylor, Glen; van Vlijmen, Ivonne M.; van Haren, Brigitte; Miller, Walter L.; Bristow, James

doi:10.1056/nejmoa002939

Cited by 392Connective tissue disorders researchDermatological and Skeletal DisordersSkin and Cellular Biology Research

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency

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Schalkwijk, Joost, Zweers, Manon C., Steijlen, Peter M., Dean, Willow B., Taylor, Glen, van Vlijmen, Ivonne M., van Haren, Brigitte, Miller, Walter L. +1 more·2001·New England Journal of Medicine

DOI 10.1056/nejmoa002939

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Abstract

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.
“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
The Discussion states that tenascin-X-deficient patients had clinical findings similar to classic EDS. It documents complete absence of tenascin-X in serum, skin, and fibroblast-conditioned medium, but does not establish its absence throughout the body. (LLM, conf=0.86)
Experimental — accuracy not yet measured
Tenascin-X deficiency causes a clinically distinct, more severe form of EDS, either with or without associated 21-hydroxylase deficiency.
“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]
The Abstract concludes that tenascin-X deficiency causes a clinically distinct form of EDS, and Clinical Findings in Tenascin-X Deficiency reports affected patients both with and without coexisting congenital adrenal hyperplasia due to 21-hydroxylase deficiency. The Discussion only suggests that tenascin-X deficiency may be particularly debilitating; it does not establish that this form is more severe. Page numbers are unavailable in our copy. (LLM, conf=0.88)
Experimental — accuracy not yet measured
Complete tenascin-X deficiency has been reported to cause classic EDS in an autosomal recessive manner, whereas the most prevalent type of hypermobile EDS is associated with defects in tenascin-X in an autosomal dominant manner.
“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]
The Abstract reports that complete tenascin-X deficiency causes a recessive form of Ehlers-Danlos syndrome. The Discussion, however, calls that form clinically distinct from classic EDS, noting that the patients lacked atrophic scars. The sentence cites other sources for its separate claim about dominant inheritance in hypermobile EDS. (LLM, conf=0.88)
Experimental — accuracy not yet measured
The serum tenascin-X test based on enzyme-linked immunosorbent assay has been used to identify complete deficiency, but it is not accurate in identifying heterozygous forms and is not commercially available for general practice.
“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]
The Methods and Table 1 report a serum tenascin-X ELISA that identified five patients with undetectable tenascin-X. Table 1 also reports lower average levels in 12 obligate heterozygotes, but the paper does not establish that the test is inaccurate for identifying heterozygotes. Our copy does not address commercial availability for general practice. (LLM, conf=0.84)
Experimental — accuracy not yet measured
Hypermobility-type EDS, the most common type of EDS, has been associated with TNXB defects, but the etiology is mostly unknown.
“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]
The Abstract (page not provided) reports TNXB mutations in patients with EDS, supporting an association with EDS generally. But the Discussion describes their condition as distinct from previously described types, and the Clinical Findings section says four of five patients were unclassified at referral; the paper does not establish an association specifically with hypermobility-type EDS. Its statement that many cases remain unexplained concerns classic EDS, and it does not identify hypermobility-type EDS as the most common type. (LLM, conf=0.84)
Experimental — accuracy not yet measured

Patients with classical-like EDS are completely depleted of the TNX protein in serum.
“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
The TNX-deficient type is very similar to the classical type of EDS with two major differences: no atrophic scarring was apparent, and the inheritance pattern was autosomal recessive.
“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]
Schalkwijk et al. detected a complete TNX deficiency in five EDS patients and three affected siblings, one of whom had the contiguous gene syndrome.
“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]
Attempts to disclose the genetic cause(s) of hEDS have been so far inconclusive.
“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]
Several studies struggled to define hEDS genetic etiology without compelling evidence, corroborating the hypothesis of high genetic heterogeneity.
“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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\nA clinical and cardiovascular survey of Ehlers-Danlos syndrome patients with complete deficiency of tenascin-X.
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Recognizing the tenascin‐X deficient type of Ehlers–Danlos syndrome: a cross‐sectional study in 17 patients
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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)
ORCID: Schalkwijk, Joost
Steijlen, Peter M.
Miller, Walter L.
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
DOI: 10.1056/nejmoa002939
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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A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency

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