{"doi":"10.1016/j.rpth.2023.102232","title":"Characterization of copy-number variants in a large cohort of patients with von Willebrand disease reveals a relationship between disrupted regions and disease type","abstract":"Background: ) gene; however, this technique cannot always detect copy-number variants (CNVs). Additional mapping of CNVs in patients with VWD is needed. Objectives: This study aimed to characterize CNVs in a large sample of VWF mutation-negative VWD patients. Methods: pseudogene. This was performed on 204 mutation-negative subjects for whom clinical variables were also available. Results: Among the 204 patients, 7 unique CNVs were found, with a total of 24 CNVs (12%). Of the 7 unique CNVs, 1 was novel, 1 was found in a VWF database, and 5 were previously reported. All patients with type 1C VWD and a CNV had the same exon 33 and 34 in-frame deletion. Certain clinical variables were also significantly different between those with and without CNVs. Conclusion: The in-frame deletion in patients with type 1C VWD exactly matches the D4N module of the D4 domain, a region where mutations and deletions are known to affect clearance. We observed significantly higher VWF-to-ristocetin cofactor levels in patients with type 1C VWD and a CNV than in patients without a CNV, suggesting a relationship between CNVs and the increased clearance observed in patients with type 1C VWD. Glycoprotein IbM activity was significantly lower in patients with type 1 VWD and a CNV than in patients without a CNV, suggesting that platelet binding is more affected by CNVs than single base pair mutations. This work elucidates some of the underlying genetic mechanisms of CNVs in these patients.","journal":"Research and Practice in Thrombosis and Haemostasis","year":2023,"id":385472,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":2,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.502,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2023-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":482579,"name":"Pamela A. Christopherson","orcid":"0000-0001-6758-9815","position":1,"is_corresponding":false},{"id":1153924,"name":"Crystal L. Perry","orcid":null,"position":2,"is_corresponding":false},{"id":1037696,"name":"Daniel B. Bellissimo","orcid":null,"position":3,"is_corresponding":false},{"id":482580,"name":"Sandra L. Haberichter","orcid":"0000-0002-5545-8014","position":4,"is_corresponding":false},{"id":308336,"name":"Gabe Haller","orcid":"0000-0002-3884-5776","position":5,"is_corresponding":false},{"id":61926,"name":"Lilian Antunes","orcid":null,"position":6,"is_corresponding":false},{"id":449380,"name":"Veronica H. Flood","orcid":"0000-0001-8998-6838","position":7,"is_corresponding":false},{"id":295120,"name":"Jorge Di Paola","orcid":"0000-0002-1461-2871","position":8,"is_corresponding":false},{"id":449382,"name":"Robert R. Montgomery","orcid":"0000-0003-2285-4077","position":9,"is_corresponding":false},{"id":308333,"name":"Brooke Sadler","orcid":"0000-0002-3268-3809","position":0,"is_corresponding":true}],"reference_count":25,"raw_metadata":null,"created_at":"2026-07-19T01:17:52.636565Z","pmid":"38077814","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}