Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene

American Journal of Medical Genetics. Part a
Roberto Mendoza-LondonoLuisa Bonafe

Abstract

We report on a consanguineous, Afghani family with two sisters affected with characteristic facial features, multiple contractures, progressive joint and skin laxity, hemorrhagic diathesis following minor trauma and multisystem fragility-related manifestations suggestive of a diagnosis of musculocontractural Ehlers-Danlos syndrome (EDS). This novel form of connective tissue disorder was recently reported in patients of Japanese, Turkish, and Indian descent who were formerly classified as having EDS type VIB and has now been recognized to be a part of spectrum including patients previously classified as having adducted thumb-clubfoot syndrome. We identified a previously unreported mutation in the CHST14 gene, which codes for the enzyme dermatan 4-O-sulfotransferase. We discuss the prenatal presentation, detailed clinical manifestations, and neurological findings in two sisters with this newly described musculocontractural EDS-CHST14 type. We demonstrate that fibroblasts from one of our patients produce more chondroitin sulfate than normal and show lower than normal deposition of collagens I and II and fibrillin 1-containing microfibrills. These findings suggest that the imbalance in the glycosaminoglycan content in developing ti...Continue Reading

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Citations

Dec 10, 2015·Pediatrics International : Official Journal of the Japan Pediatric Society·Tomoki Kosho
Sep 17, 2015·American Journal of Medical Genetics. Part a·Andreas R JaneckeBeat Steinmann
Aug 19, 2014·Seizure : the Journal of the British Epilepsy Association·Alberto VerrottiPasquale Parisi
Oct 29, 2014·American Journal of Medical Genetics. Part a·A MochizukiT P Slavin
Jun 19, 2013·Biochimica Et Biophysica Acta·Tadahisa Mikami, Hiroshi Kitagawa
Aug 5, 2016·Orphanet Journal of Rare Diseases·Albert BuschRené Wildenauer
Mar 18, 2017·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Angela F BradyFransiska Malfait
May 25, 2013·Human Molecular Genetics·Thomas MüllerAndreas R Janecke
Oct 6, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sanne D'hondtFransiska Malfait
May 11, 2021·International Journal of Legal Medicine·Qian WangFeijun Huang

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