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 [1]. There exist different tenascin isoforms. One of them is tenascin-X (TNX) encoded by TNXB gene [2]. 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].

Source: Neuromuscular Disorders - September 6, 2020 Category: Neurology Authors: Marion Brisset, Corinne Metay, Robert-Yves Carlier, Carmen Badosa, Caterina Marques, Joost Schalkwijk, Ivonne vanVlijmen-Willems, Cecilia Jimenez-Mallebrera, Boris Keren, Val érie Jobic, Pascal Laforêt, Edoardo Malfatti Source Type: research