{"doi":"10.1002/ajmg.a.32468","title":"<i>BMPR2</i> mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia","abstract":"<jats:title>Abstract</jats:title><jats:p>Pulmonary arterial hypertension (PAH) and hereditary hemorrhagic telangiectasia (HHT) are distinct clinical entities caused by germline mutations in genes encoding members of the TGFβ/BMP superfamily: <jats:italic>BMPR2</jats:italic> in PAH and <jats:italic>ACVRL1</jats:italic>, <jats:italic>ENG</jats:italic>, or <jats:italic>SMAD4</jats:italic> in HHT. When PAH and HHT occasionally co‐exist within the same family, <jats:italic>ACVRL1</jats:italic> mutations predominate. We report a 36‐year‐old woman initially diagnosed with PAH at age 24. At 35, following massive hemoptysis, multiple pulmonary arteriovenous malformations were discovered, prompting evaluation for HHT. She met the Curaçao diagnostic criteria for suspected HHT based on additional findings of nasal telangiectases and epistaxis. Mutation analysis of <jats:italic>ACVRL1</jats:italic>, <jats:italic>ENG</jats:italic>, and <jats:italic>SMAD4</jats:italic> was normal, but a germline nonsense mutation in <jats:italic>BMPR2</jats:italic> was identified. This is the first known report of HHT features, particularly pulmonary AVMs, associated with a <jats:italic>BMPR2</jats:italic> mutation. It adds further weight to a common molecular pathogenesis in PAH and HHT, and highlights that <jats:italic>BMPR2</jats:italic> gene analysis is indicated in patients affected with both HHT and PAH. © 2008 Wiley‐Liss, Inc.</jats:p>","journal":"American Journal of Medical Genetics Part A","year":2008,"id":593667,"datarank":0.5837730447165941,"base_score":3.8918202981106265,"endowment":3.8918202981106265,"self_citation_contribution":0.5837730447165941,"citation_network_contribution":0.0,"self_endowment_contribution":0.5837730447165941,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":48,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1519508,"name":"Constance Jennings","orcid":null,"position":1,"is_corresponding":false},{"id":1519509,"name":"Rainer Lehtonen","orcid":null,"position":2,"is_corresponding":false},{"id":1518372,"name":"Omar A. 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When PAH and HHT occasionally co‐exist within the same family, <jats:italic>ACVRL1</jats:italic> mutations predominate. We report a 36‐year‐old woman initially diagnosed with PAH at age 24. At 35, following massive hemoptysis, multiple pulmonary arteriovenous malformations were discovered, prompting evaluation for HHT. She met the Curaçao diagnostic criteria for suspected HHT based on additional findings of nasal telangiectases and epistaxis. Mutation analysis of <jats:italic>ACVRL1</jats:italic>, <jats:italic>ENG</jats:italic>, and <jats:italic>SMAD4</jats:italic> was normal, but a germline nonsense mutation in <jats:italic>BMPR2</jats:italic> was identified. This is the first known report of HHT features, particularly pulmonary AVMs, associated with a <jats:italic>BMPR2</jats:italic> mutation. It adds further weight to a common molecular pathogenesis in PAH and HHT, and highlights that <jats:italic>BMPR2</jats:italic> gene analysis is indicated in patients affected with both HHT and PAH. © 2008 Wiley‐Liss, Inc.</jats:p>","is_dataset_classified":null,"base_score":3.8918202981106265,"endowment":3.8918202981106265,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"18792970","pmcid":null,"openalex_id":"https://openalex.org/W2159332128","authors":[],"funders":[],"total_grants":0,"fwci":1.0002,"citation_percentile":0.77734578,"influential_citations":0,"citation_trend":[{"year":2012,"count":2},{"year":2013,"count":3},{"year":2014,"count":3},{"year":2015,"count":5},{"year":2016,"count":2},{"year":2017,"count":4},{"year":2018,"count":4},{"year":2019,"count":1},{"year":2020,"count":2},{"year":2021,"count":2},{"year":2022,"count":5},{"year":2023,"count":3},{"year":2024,"count":2},{"year":2025,"count":1},{"year":2026,"count":1}],"oa_status":"closed","license":"http://onlinelibrary.wiley.com/termsAndConditions#vor","oa_locations":[{"url":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.32468","host_type":"publisher"},{"url":"https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.32468","host_type":"publisher"},{"url":"https://doi.org/10.1002/ajmg.a.32468","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/18792970","host_type":"repository"}],"fields_of_study":["Vascular Anomalies and Treatments","Pulmonary Hypertension Research and Treatments","Adult","Bone Morphogenetic Protein Receptors, Type II","Female","Germ-Line Mutation","Humans","Hypertension, Pulmonary","Models, Biological","Telangiectasia, Hereditary Hemorrhagic"],"mesh_terms":["Adult","Female","Humans","Hypertension, Pulmonary","Models, Biological","Telangiectasia, Hereditary Hemorrhagic","Germ-Line Mutation","Bone Morphogenetic Protein Receptors, Type II"],"keywords":["ACVRL1","Telangiectases","BMPR2","Medicine","Telangiectasia","Germline mutation","Germline","Mutation","Pulmonary hypertension","Endoglin","Pathology","Internal medicine","Genetics","Gene","Biology","Bone morphogenetic protein"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-07-27T11:51:33.491624Z","pmid":null,"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":[]}