{"doi":"10.1111/cge.70118","title":"Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions","abstract":"This study is aimed at determining the spectrum of congenital heart disease associated with distal 22q11.22-23 deletions flanked by low copy repeats, LCR22 D-H. We analyzed cardiology findings in 128 unrelated individuals with distal LCR22 D-H deletions. A total of 62 were newly described and 66 were derived from previous reports. We found that deletions which included LCR22-D as the proximal endpoint were the most prevalent in the cohort (104/128, 81.3%). Clinically relevant congenital heart disease was identified in 48 individuals (37.5%, 95% CI 29%-46%), which is lower than the prevalence reported for typical, proximal LCR22 A-D deletions (p = 3.7E-4), especially for conotruncal defects (13/128, 10.2%; p = 7.1E-13). Mild to moderate CHD predominated, including ventricular septal defects (22/128), bicuspid aortic valve (9/128) and mild cardiomyopathy (3/128). Persistent truncus arteriosus was the most prevalent (n = 8/13) conotruncal heart defect, but other anomalies also occurred in singleton cases. These findings support the need for cardiac evaluation in all individuals with distal 22q11.22-23 deletions, increased use of clinical genetic testing in syndromic individuals with these findings, and molecular studies in model systems. The results demonstrate that reduced gene dosage of distal 22q11.21-23, particularly within the D-E region including MAPK1 and HIC2 convey risk for CHD.","journal":"Clinical Genetics","year":2025,"id":584594,"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":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9041,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":265429,"name":"Daniel E. McGinn","orcid":null,"position":1,"is_corresponding":false},{"id":263907,"name":"T. 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Cristina Digilio","orcid":"0000-0002-9168-3606","position":10,"is_corresponding":false},{"id":263909,"name":"Marta Unolt","orcid":"0000-0002-4133-714X","position":11,"is_corresponding":false},{"id":1008367,"name":"Carolina Putotto","orcid":"0000-0003-3778-3769","position":12,"is_corresponding":false},{"id":1488497,"name":"Federica Pulvirenti","orcid":"0000-0002-3466-9496","position":13,"is_corresponding":false},{"id":1008368,"name":"Bruno Marino","orcid":"0000-0002-9256-5556","position":14,"is_corresponding":false},{"id":289657,"name":"Beverly S. Emanuel","orcid":"0000-0002-9207-6955","position":15,"is_corresponding":false},{"id":37350,"name":"Elaine H. Zackai","orcid":"0000-0002-8002-893X","position":16,"is_corresponding":false},{"id":18862,"name":"Zhengdong D. 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