ArticleMolecular genetics & genomic medicine2022
Whole-exome sequencing facilitates the differential diagnosis of Ehlers-Danlos syndrome (EDS).
Article in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 8 citations in OpenAlex.
- A novel deep intronic COL5A1 variant in an Ehlers-Danlos syndrome family: functional characterization by minigene assay.Scientific reports · 2026Article
- Co-morbid monogenic disorders at chromosome region 1q2: LMNA- and FLG-related disorders in a patient referred for assessment of joint hypermobility.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2025Article
- Hybridized deep learning goniometry for improved precision in Ehlers-Danlos Syndrome (EDS) evaluation.BMC medical informatics and decision making · 2024Article
- Identification of novel variations in three cases with rare inherited neuromuscular disorder.Experimental and therapeutic medicine · 2024Article
- Importance of comprehensive genetic testing for patients with suspected vascular Ehlers-Danlos syndrome: a family case report and literature review.Frontiers in genetics · 2023Article
- Whole-exome sequencing facilitates the differential diagnosis of Ehlers-Danlos syndrome (EDS).Molecular genetics & genomic medicine · 2022Article
- Genetic analysis of seven pateints with Hereditary Multiple Osteochondromas (HMO).American journal of translational research · 2022Article
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ehlers-Danlos syndromes (EDSs) are a group of rare monogenic conditions with strong heterogeneity and can be caused by 20 genes associating with the essence of the extracellular matrix (ECM). This study enrolled three cases with various subtypes of EDS. Clinical evaluation and genetic testing with whole-exome sequencing (WES) were performed. The clinical manifestations of all three patients were thoroughly monitored; and three de novo diagnostic variants, namely COL5A1: NM_001278074.1: c.4609-2A>C, COL3A1: NM_000090.3: c.3554G>T(p.Gly1185Val), and COL1A1: NM_000088.3: c.545G>T(p.Gly182Val) were identified from them, respectively. The findings in this study expanded the mutation spectrum of EDS and strengthened the efficiency of WES in the differential diagnosis on disorders with overlapping phenotypes and various pathogenesis.
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