{"doi":"10.1002/ajmg.a.63385","title":"Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of <scp><i>PIK3CA</i></scp>","abstract":"Turner syndrome (45,X) is caused by a complete or partial absence of a single X chromosome. Vascular malformations occur due to abnormal development of blood and/or lymphatic vessels. They arise from either somatic or germline pathogenic variants in the genes regulating growth and apoptosis of vascular channels. Aortic abnormalities are a common, known vascular anomaly of Turner syndrome. However, previous studies have described other vascular malformations as a rare feature of Turner syndrome and suggested that vascular abnormalities in individuals with Turner syndrome may be more generalized. In this study, we describe two individuals with co-occurrence of Turner syndrome and vascular malformations with a lymphatic component. In these individuals, genetic testing of the lesional tissue revealed a somatic pathogenic variant in PIK3CA-a known and common cause of lymphatic malformations. Based on this finding, we conclude that the vascular malformations presented here and likely those previously in the literature are not a rare part of the clinical spectrum of Turner syndrome, but rather a separate clinical entity that may or may not co-occur in individuals with Turner syndrome.","journal":"American Journal of Medical Genetics Part A","year":2023,"id":354190,"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":7,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.953,"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":1101823,"name":"Lydia S. Williams","orcid":null,"position":1,"is_corresponding":false},{"id":436424,"name":"Niambi Brewer","orcid":"0000-0002-7627-6594","position":2,"is_corresponding":false},{"id":399884,"name":"Lea F. Surrey","orcid":"0000-0002-6944-2232","position":3,"is_corresponding":false},{"id":1025641,"name":"Abhay Srinivasan","orcid":"0000-0002-0180-4719","position":4,"is_corresponding":false},{"id":17377,"name":"Dong Li","orcid":"0000-0002-2265-6727","position":5,"is_corresponding":false},{"id":1025647,"name":"Allison Britt","orcid":"0000-0001-6601-0453","position":6,"is_corresponding":false},{"id":1019437,"name":"James R. Treat","orcid":"0000-0001-9945-8713","position":7,"is_corresponding":false},{"id":263907,"name":"T. Blaine Crowley","orcid":"0000-0002-3272-5458","position":8,"is_corresponding":false},{"id":1026246,"name":"Nora O’Connor","orcid":null,"position":9,"is_corresponding":false},{"id":336945,"name":"Arupa Ganguly","orcid":"0000-0003-4527-3216","position":10,"is_corresponding":false},{"id":1101265,"name":"David W. Low","orcid":"0000-0002-2549-3433","position":11,"is_corresponding":false},{"id":1026248,"name":"Maria Queenan","orcid":null,"position":12,"is_corresponding":false},{"id":653055,"name":"Theodore G. Drivas","orcid":"0000-0002-8717-0111","position":13,"is_corresponding":false},{"id":37350,"name":"Elaine H. Zackai","orcid":"0000-0002-8002-893X","position":14,"is_corresponding":false},{"id":279280,"name":"Denise M. Adams","orcid":"0000-0002-2892-5369","position":15,"is_corresponding":false},{"id":37445,"name":"Håkon Håkonarson","orcid":"0000-0003-2814-7461","position":16,"is_corresponding":false},{"id":1025651,"name":"Kristen Snyder","orcid":"0000-0003-3209-0162","position":17,"is_corresponding":false},{"id":279279,"name":"Sarah E. Sheppard","orcid":"0000-0003-3480-8123","position":18,"is_corresponding":false},{"id":970414,"name":"Bede N. Nriagu","orcid":"0000-0003-3006-4796","position":0,"is_corresponding":true}],"reference_count":24,"raw_metadata":null,"created_at":"2026-07-19T01:13:06.959762Z","pmid":"37705207","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":[]}