The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to CHST14 mutations
Open accessAbstract
The musculocontractural type of Ehlers‐Danlos syndrome (MC‐EDS) has been recently recognized as a clinical entity. MC‐EDS represents a differential diagnosis within the congenital neuromuscular and connective tissue disorders spectrum. Thirty‐one and three patients have been reported with MC‐EDS so far with bi‐allelic mutations identified in CHST14 and DSE, respectively, encoding two enzymes necessary for dermatan sulfate (DS) biosynthesis. We report seven additional patients with MC‐EDS from four unrelated families, including the follow‐up of a sib‐pair originally reported with the kyphoscoliotic type of EDS in 1975. Brachycephaly, a characteristic facial appearance, an asthenic build, hyperextensible and bruisable skin, tapering fingers, instability of large joints, and recurrent formation of large subcutaneous hematomas are always present. Three of seven patients had mildly elevated serum creatine kinase. The oldest patient was blind due to retinal detachment at 45 years and died at 59 years from intracranial bleeding; her affected brother died at 28 years from fulminant endocarditis. All patients in this series harbored homozygous, predicted loss‐of‐function CHST14 mutations. Indeed, DS was not detectable in fibroblasts from two unrelated patients with homozygous mutations. Patient fibroblasts produced higher amounts of chondroitin sulfate, showed intracellular retention of collagen types I and III, and lacked decorin and thrombospondin fibrils compared with control. A great proportion of collagen fibrils were not integrated into fibers, and fiber bundles were dispersed into the ground substance in one patient, all of which is likely to contribute to the clinical phenotype. This report should increase awareness for MC‐EDS. © 2015 Wiley Periodicals, Inc.
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Intranasal administration of DDAVP after trauma effectively prevented large subcutaneous hematomas in three patients.
“Intranasal administration of 1-desamino-8-Darginine vasopressin (DDAVP) after trauma effectively prevented large subcutaneous hematomas in three patients [Kosho et al., 2010;Janecke et al., 2016].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Janecke et al., 2016
The Discussion (page not provided) says intranasal DDAVP after injury has been reported to prevent further hematoma formation and notes the same outcome in the paper’s patient P3/II. It does not establish that this occurred in three patients; the nearby reference to three patients concerns bleeding-test results, not DDAVP treatment. (LLM, conf=0.86)
Experimental — accuracy not yet measuredElevation of serum CK level was described in four patients (277, 698, 1838, 3000 IU/L).
“Elevation of serum CK (creatine kinase) level was described in four patients (277, 698, 1838, 3000 IU/L) [Janecke et al., 2016].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Janecke et al., 2016
The Results (Clinical Findings; page unavailable) report elevated CK values of 698, 1,838, and 3,000 U/L in three patients. The Discussion says one earlier case had elevated CK, supporting a total of four, but the supplied passages and targeted searches do not verify the claimed 277 IU/L value. (LLM, conf=0.87)
Experimental — accuracy not yet measuredRight-sided blindness because of retinal detachment was described in a 45-year-old female.
“Progressive visual field loss was described in a 31-year-old female [Kosho et al., 2010], deterioration in vision of the right eye because of the lacquer crack in Bruch's membrane adjacent to right fovea in a 15-year-old male [Syx et al., 2015], and right-sided blindness because of retinal detachment in a 45-year-old female [Janecke et al., 2016].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Janecke et al., 2016
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Mouse Models of Musculocontractural Ehlers-Danlos Syndrome
Yoshizawa, T., & Kosho, T. (2023) · Genes · doi:10.3390/genes14020436 · Cited by 5 · see citing works
Etiology and Pathogenesis of Clubfoot and Vertical Talus
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Collagens in the Physiopathology of the Ehlers–Danlos Syndromes
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Ehlers Danlos Syndrome with Glycosaminoglycan Abnormalities
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A Life-Threatening Complication in a Patient with Ehlers-Danlos Syndrome Musculocontractural Type
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Clinical and Molecular Features of 11 Patients with Different Subtypes of Ehlers-Danlos Syndrome
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- Authors
- Janecke, A. R., Li, B., Boehm, M., Krabichler, B., Rohrbach, M., Müller, T., Fuchs, I., Golas, G., Katagiri, Y., Ziegler, S. G., Gahl, W. A., Wilnai, Y., Zoppi, N., Geller, H. M., Giunta, C., Slavotinek, A., & Steinmann, B.
- Affiliations
- Innsbruck Medical University (AT)
- University of California, San Francisco (US)
- National Institutes of Health (US)
- University Children's Hospital Zurich (CH)
- Stanford Medicine (US)
- University of Brescia (IT)
- Corresponding author
- Janecke, Andreas R.
- ORCID
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2015-09-16
- Volume
- 170
- Issue
- 1
- Pages
- 103-115
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- PMC
- PMC5115638
- OpenAlex
- W2114489295
- Cited by
- 66
- References
- 37
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 3 · 2023: 6 · 2022: 7 · 2021: 7 · 2020: 9 · 2019: 5 · 2018: 10 · 2017: 7 · 2016: 3 · 2015: 1 · 2014: 1
- FWCI
- 4.81
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Zurich Open Repository and Archive (University of Zurich) (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Institutional Research Information System (Università degli Studi di Brescia) (submittedVersion, other-oa)
- Zurich Open Repository and Archive (University of Zurich) (submittedVersion)
- Funders
- Danish National Science Foundation (310030_138288)
- National Human Genome Research Institute
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Proteoglycans and glycosaminoglycans research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
- Keywords
- chondroitin sulfate, decorin, thrombospondin, connective tissue diseases, serum creatine kinase, retinal detachment, endocarditis, fibroblast ultrastructure
- MeSH terms
- Adolescent, Adult, Child, Child, Preschool, Connective Tissue Diseases, Ehlers-Danlos Syndrome, Female, Fibroblasts, Humans, Infant, Male, Middle Aged, Mutation, Sulfotransferases, Fluorescent Antibody Technique, Indirect, Dermis, Young Adult
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