ArticleAmerican journal of medical genetics. Part A2016
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.
Article in American journal of medical genetics. Part A, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
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Who cites it
36 citing papers in PubMed, 1 synthesis or guideline pooled it, 62 citations in OpenAlex.
- Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Pooled it
- Comprehensive analysis of the skeletal phenotype in Chst14-/- mice: implications for dermatan sulfate in bone structure and strength.Glycobiology · 2026Article
- Clinical and Molecular Features of 11 Patients with Different Subtypes of Ehlers-Danlos Syndrome.Molecular syndromology · 2026Article
- Congenital disorders caused by aberrations in the biosynthesis of chondroitin/dermatan sulfate.Journal of human genetics · 2025Review
- The Expanding Genetic Architecture of Arteriopathies: From Canonical TAAD Genes to Emerging Connective Tissue and Signaling Pathways.Medical sciences (Basel, Switzerland) · 2025Review
- Article
- Rhegmatogenous Retinal Detachment in Musculocontractural Ehlers-Danlos Syndrome Caused by Biallelic Loss-of-Function Variants of Gene for Dermatan Sulfate Epimerase.Journal of clinical medicine · 2023Article
- Review
- Review
- Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants inJournal of medical genetics · 2022Article
- The Specific Role of Dermatan Sulfate as an Instructive Glycosaminoglycan in Tissue Development.International journal of molecular sciences · 2022Review
- Review
- Ehlers-Danlos syndromes and their manifestations in the visual system.Frontiers in medicine · 2022Review
- Case report: Multiple gastrointestinal perforations in a rare musculocontractural Ehlers-Danlos syndrome with multiple organ dysfunction.Frontiers in genetics · 2022Article
- A new mouse model of Ehlers-Danlos syndrome generated using CRISPR/Cas9-mediated genomic editing.Disease models & mechanisms · 2021Article
- Differences in MPS I and MPS II Disease Manifestations.International journal of molecular sciences · 2021Review
- Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes.Developmental dynamics : an official publication of the American Association of Anatomists · 2021Review
- Ehlers-Danlos Syndromes, Joint Hypermobility and Hypermobility Spectrum Disorders.Advances in experimental medicine and biology · 2021Article
- Ehlers Danlos Syndrome with Glycosaminoglycan Abnormalities.Advances in experimental medicine and biology · 2021Article
- Review
Corrections and comments
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Authors and funding
17 authors at 8 institutions in 4 countries.
Funding
Abstract
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.
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