Deprecated: Constant FILTER_SANITIZE_STRING is deprecated in /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php on line 40

Deprecated: Constant FILTER_SANITIZE_STRING is deprecated in /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php on line 49

Deprecated: Constant FILTER_SANITIZE_STRING is deprecated in /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php on line 59

Warning: Cannot modify header information - headers already sent by (output started at /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php:40) in /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php on line 208

Warning: Cannot modify header information - headers already sent by (output started at /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php:40) in /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php on line 209

Warning: Cannot modify header information - headers already sent by (output started at /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php:40) in /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php on line 210

Warning: Cannot modify header information - headers already sent by (output started at /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php:40) in /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php on line 211

Warning: Cannot modify header information - headers already sent by (output started at /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php:40) in /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php on line 212

Warning: Cannot modify header information - headers already sent by (output started at /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php:40) in /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php on line 213
TY - JOUR JO - Advances in Clinical and Experimental Medicine J2 - Adv Clin Exp Med SN - 1899-5276 PB - Wroclaw Medical University VL - 32 IS - 7 PY - 2023 ID - Junkiert-Czarnecka2023-07-26 TI - A novel mutation in collagen transport protein, MIA3 gene, detected in a patient with clinical symptoms of Ehlers–Danlos hypermobile syndrome AB - Background. Collagen, the most abundant human protein, is a significant component of the extracellular matrix (ECM) in tissues and organs like skin, bone, ligaments, and tendons. Collagen secretion is a complex, multistage process involving many molecules. A protein playing one of the main functions in this process is TANGO1 encoded by MIA3 gene. In the hypermobile type of Ehlers–Danlos syndrome (hEDS), one of the most common collagenopathies with no known genetic background, disrupted secretion of many molecules (including collagen) was observed.Objectives. The aim of this study was the evaluation of the MIA3 gene role in hEDS patients.Material and Methods. One hundred patients with clinically diagnosed hEDS and negative next-generation sequencing (NGS) testing for connective tissue disorder (e.g. Ehlers–Danlos syndrome, osteogenesis imperfect (OI), Marfan syndrome, and others) were tested for molecular changes in the MIA3 gene.Results. Among the 100 tested patients, 14 single structural changes in the MIA3 gene were detected. Thirteen were missense benign or likely benign, while 1 variant (c.567dup, p.Leu1880ThrfsTer6) was truncating the TANGO1 protein.Conclusion. We suppose that the presence of truncating variant (c.5637dup) in the MIA3 gene and disrupted secretion of connective tissue protein may be one of the pathogenic mechanisms of clinical symptoms present in the tested patient, but these findings require a more comprehensive multidimensional investigation. AU - Junkiert-Czarnecka, Anna AU - Pilarska-Deltow, Maria AU - Bąk, Aneta AU - Heise, Marta AU - Haus, Olga SP - 777 EP - 781 DA - 2023-07-26 DO - 10.17219/acem/158028 UR - http://dx.doi.org/10.17219/acem/158028 ER -