{"doi":"10.1002/ajmg.a.63208","title":"Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in <i>MECOM</i>‐associated syndromes","abstract":"The MECOM gene encodes multiple protein isoforms that are essential for hematopoietic stem cell self-renewal and maintenance. Germline MECOM variants have been associated with congenital thrombocytopenia, radioulnar synostosis and bone marrow failure; however, the phenotypic spectrum of MECOM-associated syndromes continues to expand and novel pathogenic variants continue to be identified. We describe eight unrelated patients who add to the previously known phenotypes and genetic defects of MECOM-associated syndromes. As each subject presented with unique MECOM variants, the series failed to demonstrate clear genotype-to-phenotype correlation but may suggest a role for additional modifiers that affect gene expression and subsequent phenotype. Recognition of the expanded hematologic and non-hematologic clinical features allows for rapid molecular diagnosis, early identification of life-threatening complications, and improved genetic counseling for families. A centralized international publicly accessible database to share annotated MECOM variants would advance their clinical interpretation and provide a foundation to perform functional MECOM studies.","journal":"American Journal of Medical Genetics Part A","year":2023,"id":337140,"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":18,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9459,"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":299142,"name":"Alison A. Bertuch","orcid":"0000-0003-1864-8502","position":1,"is_corresponding":false},{"id":1068449,"name":"Zeinab Afify","orcid":"0000-0001-7238-0389","position":2,"is_corresponding":false},{"id":1069015,"name":"Kaylee Dollerschell","orcid":null,"position":3,"is_corresponding":false},{"id":845936,"name":"Joanne I. Hsu","orcid":"0000-0002-1194-0650","position":4,"is_corresponding":false},{"id":913462,"name":"Tami John","orcid":"0000-0003-0632-3559","position":5,"is_corresponding":false},{"id":1069016,"name":"Emily S. Rao","orcid":null,"position":6,"is_corresponding":false},{"id":61854,"name":"R. Grant Rowe","orcid":"0000-0003-3620-2950","position":7,"is_corresponding":false},{"id":17323,"name":"Vijay G. Sankaran","orcid":"0000-0003-0044-443X","position":8,"is_corresponding":false},{"id":235464,"name":"Akiko Shimamura","orcid":"0000-0002-4683-9958","position":9,"is_corresponding":false},{"id":3665,"name":"David A. Williams","orcid":"0000-0001-7057-6863","position":10,"is_corresponding":false},{"id":503396,"name":"Taizo A. Nakano","orcid":"0000-0003-0389-2297","position":11,"is_corresponding":false},{"id":1069014,"name":"Michell M. Lozano Chinga","orcid":null,"position":0,"is_corresponding":true}],"reference_count":33,"raw_metadata":null,"created_at":"2026-07-19T01:10:26.690308Z","pmid":"37067177","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":[]}