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Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6
Open AccessArticle

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant

1
Connective Tissue Unit, Division of Metabolism and Children’s Research Centre, University Children’s Hospital, 8032 Zürich, Switzerland
2
Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy
*
Author to whom correspondence should be addressed.
These authors are contributed equally.
Genes 2019, 10(11), 843; https://doi.org/10.3390/genes10110843
Received: 25 September 2019 / Revised: 20 October 2019 / Accepted: 23 October 2019 / Published: 25 October 2019
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. View Full-Text
Keywords: Tenascin X; TNXB; Ehlers-Danlos syndrome; EDS; connective tissue; collagen Tenascin X; TNXB; Ehlers-Danlos syndrome; EDS; connective tissue; collagen
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Rymen, D.; Ritelli, M.; Zoppi, N.; Cinquina, V.; Giunta, C.; Rohrbach, M.; Colombi, M. Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant. Genes 2019, 10, 843.

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