{"doi":"10.3390/genes13101800","title":"Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome","abstract":"Learning and intellectual disabilities are hallmark features of 22q11.2 deletion syndrome. Data are limited, however, regarding influences on full-scale IQ (FSIQ). Here, we investigated possible 22q11.2 deletion parent-of-origin effects. In 535 individuals, we compared FSIQ (≥50), 481 with de novo and 54 with inherited 22q11.2 deletions. In the subsets with data available, we examined parent-of-origin effects on FSIQ. We used linear regression models to account for covariates. Median FSIQ was significantly higher in de novo vs. inherited deletions (77; range 50−116 vs. 67; range 50−96, p < 0.0001). Results remained significant using a regression model accounting for age at IQ testing, sex and cohort site. No significant parent-of-origin differences in FSIQ were observed for de novo deletions (n = 81, 63.0% maternal; p = 0.6882). However, median FSIQ was significantly lower in maternally than in paternally inherited familial deletions (65, range 50−86 vs. 71.5, range 58−96, respectively, p = 0.0350), with the regression model indicating an ~8 point decrement in FSIQ for this variable (p = 0.0061). FSIQ is higher on average in de novo than in inherited 22q11.2 deletions, regardless of parental origin. However, parent-of-origin appears relevant in inherited deletions. The results have potential clinical implications with further research needed to delineate possible actionable mechanisms.","journal":"Genes","year":2022,"id":286788,"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":0.9566,"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":263907,"name":"T. Blaine Crowley","orcid":"0000-0002-3272-5458","position":1,"is_corresponding":false},{"id":263875,"name":"Tracy Heung","orcid":"0000-0003-1860-7292","position":2,"is_corresponding":false},{"id":263897,"name":"Oanh Tran","orcid":"0009-0006-4624-8142","position":3,"is_corresponding":false},{"id":263908,"name":"Edward Moss","orcid":"0000-0002-5722-6356","position":4,"is_corresponding":false},{"id":37350,"name":"Elaine H. Zackai","orcid":"0000-0002-8002-893X","position":5,"is_corresponding":false},{"id":289657,"name":"Beverly S. Emanuel","orcid":"0000-0002-9207-6955","position":6,"is_corresponding":false},{"id":289660,"name":"Eva W.C. Chow","orcid":"0000-0002-5734-9778","position":7,"is_corresponding":false},{"id":263880,"name":"Bernice E. Morrow","orcid":"0000-0002-8076-4726","position":8,"is_corresponding":false},{"id":263881,"name":"Ann Swillen","orcid":"0000-0003-4258-4537","position":9,"is_corresponding":false},{"id":418644,"name":"Anne S. Bassett","orcid":"0000-0002-0681-7279","position":10,"is_corresponding":false},{"id":263879,"name":"Donna M. McDonald‐McGinn","orcid":"0000-0003-4077-250X","position":11,"is_corresponding":false},{"id":265429,"name":"Daniel E. McGinn","orcid":null,"position":0,"is_corresponding":true}],"reference_count":25,"raw_metadata":null,"created_at":"2026-07-19T00:29:52.825777Z","pmid":"36292685","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":[]}