{"doi":"10.3390/diagnostics12061438","title":"Airflow Obstruction in Adults with Williams Syndrome and Mice with Elastin Insufficiency","abstract":"Williams−Beuren syndrome (WS) results from the deletion of 25−27 coding genes, including elastin (ELN), on human chromosome 7q11.23. Elastin provides recoil to tissues; emphysema and chronic obstructive pulmonary disease have been linked to its destruction. Consequently, we hypothesized that elastin insufficiency would predispose to obstructive features. Twenty-two adults with WS (aged 18−55) and controls underwent pulmonary function testing, 6 min walk, and chest computed tomography (CT). Lung and airspace dimensions were assessed in Eln+/− and control mice via microCT and histology. The forced expiratory volume in 1 s (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) were lower in adults with WS (p < 0.0001 and p < 0.05, respectively). The FEV1/FVC ratio was more frequently below the lower limit of normal in cases (p < 0.01). The ratio of residual volume to total lung capacity (RV/TLC, percent predicted) was higher in cases (p < 0.01), suggesting air trapping. People with WS showed reduced exercise capacity (p < 0.0001). In Eln+/− mice, ex vivo lung volumes were increased (p < 0.0001), with larger airspaces (p < 0.001). Together these data show that elastin insufficiency impacts lung physiology in the form of increased air trapping and obstruction, suggesting a role for lung function monitoring in adults with WS.","journal":"Diagnostics","year":2022,"id":290085,"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":4,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9558,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2022-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":972107,"name":"Maninder Kaur","orcid":"0000-0001-7602-5528","position":1,"is_corresponding":false},{"id":447522,"name":"Leah M. Gober","orcid":"0009-0005-0590-8856","position":2,"is_corresponding":false},{"id":329351,"name":"Russell H. Knutsen","orcid":"0000-0001-6761-6502","position":3,"is_corresponding":false},{"id":462692,"name":"Yi‐Ping Fu","orcid":null,"position":4,"is_corresponding":false},{"id":242702,"name":"Zu‐Xi Yu","orcid":"0000-0002-1341-4486","position":5,"is_corresponding":false},{"id":415855,"name":"Danielle Donahue","orcid":"0000-0002-3371-665X","position":6,"is_corresponding":false},{"id":235792,"name":"Marcus Y. Chen","orcid":"0000-0003-0743-9369","position":7,"is_corresponding":false},{"id":879820,"name":"Sharon Osgood","orcid":"0000-0002-1080-9212","position":8,"is_corresponding":false},{"id":880332,"name":"Neelam Raja","orcid":null,"position":9,"is_corresponding":false},{"id":447523,"name":"Mark Levin","orcid":"0000-0002-2241-9828","position":10,"is_corresponding":false},{"id":628705,"name":"Amisha V. Barochia","orcid":"0000-0002-7352-6412","position":11,"is_corresponding":false},{"id":337303,"name":"Beth A. Kozel","orcid":"0000-0002-9757-7118","position":12,"is_corresponding":false},{"id":448446,"name":"Elise K. Kronquist","orcid":null,"position":0,"is_corresponding":true}],"reference_count":32,"raw_metadata":null,"created_at":"2026-07-19T00:30:26.667578Z","pmid":"35741248","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":[]}