Genes, Vol. 10, Pages 843: Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant

Genes, Vol. 10, Pages 843: Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant Genes doi: 10.3390/genes10110843 Authors: Daisy Rymen Marco Ritelli Nicoletta Zoppi Valeria Cinquina Cecilia Giunta Marianne Rohrbach Marina Colombi The Ehlers-Danlos syndromes (EDS) constitute a clinically and genetically heterogeneous group of connective tissue disorders. Tenascin X (TNX) deficiency is a rare type of EDS, defined as classical-like EDS (clEDS), since it phenotypically resembles the classical form of EDS, though lacking atrophic scarring. Although most patients display a well-defined phenotype, the diagnosis of TNX-deficiency is often delayed or overlooked. Here, we described an additional patient with clEDS due to a homozygous null-mutation in the TNXB gene. A review of the literature was performed, summarizing the most important and distinctive clinical signs of this disorder. Characterization of the cellular phenotype demonstrated a distinct organization of the extracellular matrix (ECM), whereby clEDS distinguishes itself from most other EDS subtypes by normal deposition of fibronectin in the ECM and a normal organization of the α5β1 integrin.
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research

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Source: Nursing Made Incredibly Easy - Category: Nursing Tags: Department: Patho Puzzler Source Type: research
DiscussionCette étude a permis de mettre à jour une altération de la capacité de ces patients à utiliser les afférences proprioceptives tant pour le contrôle de l’orientation que de la stabilisation posturale.
Source: Neurophysiologie Clinique - Category: Neuroscience Source Type: research
No abstract available
Source: Clinical Dysmorphology - Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
This article is protected by copyright. All rights reserved. PMID: 31794058 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
We present the case of a 9-year-old boy with abdominal pain and retching. An abdominal computed tomography revealed free air under the diaphragm, and surgical exploration showed perforation of the sigmoid colon. Ultimately, he was diagnosed with vEDS. We review the literature and discuss the clinical presentation, diagnosis, and life-threatening crises associated with vEDS.
Source: Pediatric Emergency Care - Category: Emergency Medicine Tags: Illustrative Cases Source Type: research
To the Editor Singman and Doyle point out that all articles mentioning the association of angioid streaks with Ehlers-Danlos syndrome (EDS) ultimately refer to the same article published in 1966 (in which 2 individuals with EDS from the same family were demonstrated to have angioid streaks). They also report that, of 284 patients with EDS seen at the Wilmer Eye Institute, none had angioid streaks.
Source: JAMA Ophthalmology - Category: Opthalmology Source Type: research
Introduction: Vascular Ehlers-Danlos syndrome (vEDS) is a monogenetic disease caused by a mutation in procollagen 3A1. Clinical manifestations are arterial ruptures and dissections, as well as spontaneous ruptures of the colon, oesophagus and uterus. Expected survival is short, in historical cohorts approximately 50 years. In 2010 a French-Belgian randomized controlled trial (RCT), including 53 patients, reported a hazard ratio of only 0.36 of arterial events if patients were treated with the betablocker celiprolol [1], combining β1-adrenoceptor antagonist and β2-adrenoceptor agonist actions.
Source: European Journal of Vascular and Endovascular Surgery - Category: Surgery Authors: Source Type: research
This study refines the phenotype recently delineated in association with biallelic null alleles in TNXB, and adds three novel variants to its mutational repertoire. Unusual digital anomalies seem confirmed as possibly peculiar of TNXB-clEDS, while vascular fragility could be more than a chance association also in this Ehlers-Danlos syndrome type.
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research
Conclusions There are only four reports of V-EDS causing splenic rupture in the literature to date. These patients were all adults and only one had not previously been diagnosed with V-EDS. All underwent splenectomy. While V-EDS presenting with abdominal visceral rupture in children has been reported, this is the first report of a child with V-EDS presenting with splenic rupture. It is the only case of splenic rupture secondary to V-EDS that has been managed minimally invasively by embolization. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  | &nb...
Source: European Journal of Pediatric Surgery Reports - Category: Surgery Authors: Tags: Review Article Source Type: research
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