Special Issue "Musculocontractural Ehlers-Danlos Syndrome and the Biological Role of Dermatan Sulfate"
Deadline for manuscript submissions: closed (10 December 2022) | Viewed by 1441
2. Center for Medical Genetics, Shinshu University Hospital, Matsumoto 390-8621, Japan
3. Research Center for Supports to Advanced Science, Matsumoto 390-8621, Japan
4. Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto 390-8621, Japan
Interests: Ehlers-Danlos syndrome; medical genetics; human genetics
Ehlers−Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of heritable connective tissue disorders characterized by skin hyperextensibility, joint hypermobility and tissue fragility. The 2017 International Classification of EDS identified 13 subtypes based on their clinical and genetic backgrounds, among them musculocontractural Ehlers–Danlos syndrome (mcEDS), caused by biallelic loss-of-function variants either in the gene for carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase 1 (CHST14/D4ST1, mcEDS-CHST14) (MIM#601776) or that for dermatan sulfate epimerase (DSE, mcEDS-DSE) (MIM#615539). Dermatan sulfate depletion through impaired activities of D4ST1 or DSE constitutes the basis of the disorder. To date, 66 patients (48 families) and 13 patients (7 families) with mcEDS-CHST14 and mcEDS-DSE , respectively, have been reported. Clinical characteristics include multiple malformations (e.g., craniofacial features, multiple congenital contractures, ocular and visceral malformations) and progressive fragility-related manifestations (e.g., skin hyperextensibility and fragility, joint hypermobility with luxation, progressive spinal and foot deformities, large subcutaneous hematoma and visceral ruptures). This is a human condition that affects the biosynthesis of dermatan sulfate, a side chain of proteoglycans; therefore, clinical, genetic, biochemical, glycobiological and pathological investigation of the disorder could elucidate dermatan sulfate proteoglycans’ fundamental biological roles in fetal development and maintenance of the connective tissue system. This Special Issue will feature a detailed overview of the latest clinical research and relevant findings as well as a comprehensive review of the literature on Ehlers–Danlos syndrome or dermatan sulfate biosynthesis. These findings would be helpful not only to clinicians involved in the management of hereditary connective tissue disorders but also scientists interested in the biological and pathological roles of dermatan sulfate proteoglycan.
Prof. Dr. Tomoki Kosho
Dr. Shuji Mizumoto
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- musculocontractural Ehlers–Danlos syndrome
- dermatan sulfate
- dermatan 4-O-sulfotransferase
- dermatan sulfate epimerase
- collagen fibril network