Biallelic mutations in Tenascin-X cause Classical-Like Ehlers-Danlos Syndrome with slowly progressive muscular weakness
Tenascins are extra cellular matrix glycoproteins largely associated with anti-adhesive effects . There exist different tenascin isoforms. One of them is tenascin-X (TNX) encoded by TNXB gene . TNX is localized in connective tissues, musculoskeletal, cardiac, and dermal tissue. A significant role in collagen fibrillogenesis is suggested by a TNX knock-out mice that demonstrated alterations in collagen deposition that mimic Ehlers-Danlos syndrome (EDS) [1,3,4]. EDS, characterized by skin hyperextensibility, generalized joint hypermobility, easy bruising, and atrophic scarring, is caused by autosomal dominant mutations in collagens genes, namely COL5A1, COL5A2, and less frequently COL1A1 [3,5].
Publication date: Available online 26 September 2020Source: International Journal of Surgery Case ReportsAuthor(s): Oliver Scheufler, Julian Ramin Andresen, Reimer Andresen
General examination – eyes and facial dysmorphism Clinically examination is guided by the symptoms. Unless the history is not correlated with findings, important diagnostic possibilities may be missed. Clinical examination starts off with a focused general examination followed by a detailed examination of the cardiovascular system. Relevant points in other systems like basal crepitations, hepatosplenomegaly and neurological deficits should be looked for. Examination strategy should be fitting to the clinical situation. When a patient presents to the emergency room, it should be a short but focused examination to perm...
CONCLUSIONS: COL5A1 c.1540G>A is the first recurring variant recognized to be associated with arterial dissections and mFMD. This variant presents with a phenotype reminiscent of vascular Ehlers-Danlos syndrome. A shared haplotype among probands supports the existence of a common founder. Relatively rare COL5A1 genetic variants predicted to be deleterious by in silico analysis were identified in ≈2.7% of mFMD cases, and as they were enriched in patients with arterial dissections, may act as disease modifiers. Molecular testing for COL5A1 should be considered in patients with a phenotype overlapping with vascular E...
Ehlers-Danlos Syndrome (EDS) comprises a heterogeneous group of diseases characterized by joint hypermobility, connective tissue friability, and vascular fragility. Reliable prognostic factors predicting vascu...
This article will focus on the surgical management of patients with knee or shoulder abnormalities related to hEDS/JHS. PMID: 32904109 [PubMed - in process]
CONCLUSION: Many adults with Loeys-Dietz- or vascular Ehlers-Danlos syndrome may have a potential to reach more favorable physical activity levels by increasing the frequency and duration of activities. Future directions should include evaluation of effects of professional-led practical and safe physical activity sessions as well as customized multidisciplinary rehabilitation programs for these patient groups. PMID: 32915071 [PubMed - as supplied by publisher]
Conclusions: This study revealed the impact of the syndrome on the social and daily life of patients, and not only in a physical level, but also in a psychological and social approach. These findings allow healthcare providers to know more about this disease in order to support and give advice to patients about the changes they will have to make.
CONCLUSION: A wide diversity in HDCT was observed at a single center. Therefore, knowledge about the phenotype-genotype correlation in HDCT is still crucial in the diagnosis of this group of diseases, and an improvement in the screening tool will be needed. PMID: 32862725 [PubMed - as supplied by publisher]
Publication date: Available online 27 August 2020Source: Journal of Pediatric Surgery Case ReportsAuthor(s): Melissa Wong, Patrick J. Javid
In conclusion, the varian t leads to expression of truncated ZNF528 and a global change of its genomic occupancy, which in turn may lead to altered expression of target genes. ZNF528 is a novel candidate gene for bone disorders and may function as a transcriptional regulator in pathways affecting bone morphology and contribu te to the phenotype of primary osteoporosis in this family together with the COL1A2 deletion. © 2020 The Authors.Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).