{"doi":"10.1002/ajmg.a.63121","title":"Mosaic pathogenic variants in <scp><i>AKT3</i></scp> cause capillary malformation and undergrowth","abstract":"Capillary malformations are slow-flow vascular malformations that affect the microcirculation including capillaries and post capillary venules and can be associated with growth differences. Specifically, the association of capillary malformations with undergrowth is a vastly understudied vascular syndrome with few reports of genetic causes including PIK3CA, GNAQ, and GNA11. Recently, a somatic pathogenic variant in AKT3 was identified in one child with a cutaneous vascular syndrome similar to cutis marmorata telangiectatica congenita, undergrowth, and no neurodevelopmental features. Here, we present a male patient with a capillary malformation and undergrowth due to a somatic pathogenic variant in AKT3 to confirm this association. It is essential to consider that mosaic pathogenic variants in AKT3 can cause a wide spectrum of disease. There is a need for future studies focusing on capillary malformations with undergrowth to understand the underlying mechanism.","journal":"American Journal of Medical Genetics Part A","year":2023,"id":366696,"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":5,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9511,"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":970414,"name":"Bede N. Nriagu","orcid":"0000-0003-3006-4796","position":1,"is_corresponding":false},{"id":1025647,"name":"Allison Britt","orcid":"0000-0001-6601-0453","position":2,"is_corresponding":false},{"id":1123857,"name":"Anjali D. Toole","orcid":null,"position":3,"is_corresponding":false},{"id":1019437,"name":"James R. Treat","orcid":"0000-0001-9945-8713","position":4,"is_corresponding":false},{"id":1025641,"name":"Abhay Srinivasan","orcid":"0000-0002-0180-4719","position":5,"is_corresponding":false},{"id":279279,"name":"Sarah E. Sheppard","orcid":"0000-0003-3480-8123","position":6,"is_corresponding":false},{"id":1123856,"name":"Amber Bolli","orcid":null,"position":0,"is_corresponding":true}],"reference_count":12,"raw_metadata":null,"created_at":"2026-07-19T01:14:59.372548Z","pmid":"36695285","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":[]}