دورية أكاديمية
Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos Syndrome
| العنوان: | Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos Syndrome |
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| المؤلفون: | Anna Junkiert-Czarnecka, Maria Pilarska-Deltow, Aneta Bąk, Marta Heise, Anna Latos-Bieleńska, Jacek Zaremba, Alicja Bartoszewska-Kubiak, Olga Haus |
| المصدر: | Current Issues in Molecular Biology, Vol 44, Iss 4, Pp 1472-1478 (2022) |
| بيانات النشر: | MDPI AG, 2022. |
| سنة النشر: | 2022 |
| المجموعة: | LCC:Biology (General) |
| مصطلحات موضوعية: | Ehlers-Danlos syndrome, collagen, connective tissue, sequencing, NGS, Polish patients, Biology (General), QH301-705.5 |
| الوصف: | Background: Ehlers-Danlos syndrome (EDS) is a common non-inflammatory, congenital connective tissue disorder. Classical type (cEDS) EDS is one of the more common forms, typically caused by mutations in the COL5A1 and COL5A2 genes, though causative mutations in the COL1A1 gene have also been described. Material and methods: The study group included 59 patients of Polish origin, diagnosed with cEDS. The analysis was performed on genomic DNA (gDNA) with NGS technology, using an Illumina sequencer. Thirty-five genes related to connective tissue were investigated. The pathogenicity of the detected variants was assessed by VarSome. Results: The NGS of 35 genes revealed variants within the COL5A1, COL5A2, COL1A1, and COL1A2 genes for 30 of the 59 patients investigated. Our panel detected no sequence variations for the remaining 29 patients. Discussion: Next-generation sequencing, with an appropriate multigene panel, showed great potential to assist in the diagnosis of EDS and other connective tissue disorders. Our data also show that not all causative genes giving rise to cEDS have been elucidated yet. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1467-3045 1467-3037 |
| Relation: | https://www.mdpi.com/1467-3045/44/4/99; https://doaj.org/toc/1467-3037; https://doaj.org/toc/1467-3045 |
| DOI: | 10.3390/cimb44040099 |
| URL الوصول: | https://doaj.org/article/0e14c75b2ebf41e8ac05cb7b60a5278f |
| رقم الأكسشن: | edsdoj.0e14c75b2ebf41e8ac05cb7b60a5278f |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 14673045 14673037 |
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| DOI: | 10.3390/cimb44040099 |