{"doi":"10.1002/ajmg.a.63226","title":"<scp>Jansen‐de Vries</scp> syndrome: Expansion of the <scp><i>PPM1D</i></scp> clinical and phenotypic spectrum in 34 families","abstract":"Jansen-de Vries syndrome (JdVS) is a neurodevelopmental condition attributed to pathogenic variants in Exons 5 and 6 of PPM1D. As the full phenotypic spectrum and natural history remain to be defined, we describe a large cohort of children and adults with JdVS. This is a retrospective cohort study of 37 individuals from 34 families with disease-causing variants in PPM1D leading to JdVS. Clinical data were provided by treating physicians and/or families. Of the 37 individuals, 27 were male and 10 female, with median age 8.75 years (range 8 months to 62 years). Four families document autosomal dominant transmission, and 32/34 probands were diagnosed via exome sequencing. The facial gestalt, including a broad forehead and broad mouth with a thin and tented upper lip, was most recognizable between 18 and 48 months of age. Common manifestations included global developmental delay (35/36, 97%), hypotonia (25/34, 74%), short stature (14/33, 42%), constipation (22/31, 71%), and cyclic vomiting (6/35, 17%). Distinctive personality traits include a hypersocial affect (21/31, 68%) and moderate-to-severe anxiety (18/28, 64%). In conclusion, JdVS is a clinically recognizable neurodevelopmental syndrome with a characteristic personality and distinctive facial features. The association of pathogenic variants in PPM1D with cyclic vomiting bears not only medical attention but also further pathogenic and mechanistic evaluation.","journal":"American Journal of Medical Genetics Part A","year":2023,"id":369222,"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":10,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.8696,"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":371860,"name":"Siddharth Srivastava","orcid":"0000-0001-7008-1879","position":1,"is_corresponding":false},{"id":308547,"name":"Pankaj B. Agrawal","orcid":"0000-0003-3255-0456","position":2,"is_corresponding":false},{"id":1033649,"name":"Tuğçe B. Balcı","orcid":"0000-0002-5409-8387","position":3,"is_corresponding":false},{"id":323116,"name":"Bert Callewaert","orcid":"0000-0002-9743-4205","position":4,"is_corresponding":false},{"id":659679,"name":"Pier Luigi Calvo","orcid":"0000-0001-9264-3465","position":5,"is_corresponding":false},{"id":282713,"name":"Diana Carli","orcid":"0000-0001-5690-6504","position":6,"is_corresponding":false},{"id":1128267,"name":"Michelle Caudle","orcid":null,"position":7,"is_corresponding":false},{"id":1128268,"name":"Samantha Colaiacovo","orcid":null,"position":8,"is_corresponding":false},{"id":639207,"name":"Laura Cross","orcid":"0000-0003-3664-0707","position":9,"is_corresponding":false},{"id":1128269,"name":"Kalliope Demetriou","orcid":null,"position":10,"is_corresponding":false},{"id":1128270,"name":"Katy Drazba","orcid":null,"position":11,"is_corresponding":false},{"id":504061,"name":"Marina Dutra‐Clarke","orcid":null,"position":12,"is_corresponding":false},{"id":1127929,"name":"Matthew Edwards","orcid":"0000-0001-8437-8120","position":13,"is_corresponding":false},{"id":308542,"name":"Casie A. Genetti","orcid":"0000-0003-4173-9947","position":14,"is_corresponding":false},{"id":286592,"name":"Dorothy K. Grange","orcid":"0000-0001-7425-6322","position":15,"is_corresponding":false},{"id":879391,"name":"Scott E. Hickey","orcid":"0000-0001-6098-2008","position":16,"is_corresponding":false},{"id":242573,"name":"Bertrand Isidor","orcid":"0000-0001-6480-126X","position":17,"is_corresponding":false},{"id":242577,"name":"Sébastien Küry","orcid":"0000-0001-5497-0465","position":18,"is_corresponding":false},{"id":503890,"name":"Herbert M. Lachman","orcid":null,"position":19,"is_corresponding":false},{"id":1127930,"name":"Alinoë Lavillaureix","orcid":"0000-0002-3727-9530","position":20,"is_corresponding":false},{"id":282690,"name":"Michael J. Lyons","orcid":"0000-0002-8644-5507","position":21,"is_corresponding":false},{"id":325987,"name":"Carlo Marcelis","orcid":"0000-0001-7095-4641","position":22,"is_corresponding":false},{"id":572232,"name":"Elysa J. Marco","orcid":"0000-0002-5284-9888","position":23,"is_corresponding":false},{"id":63768,"name":"Julián A. Martínez-Agosto","orcid":"0000-0001-6776-6949","position":24,"is_corresponding":false},{"id":355063,"name":"C. Nowak","orcid":null,"position":25,"is_corresponding":false},{"id":1127931,"name":"Antonio Pizzol","orcid":"0000-0001-9679-0462","position":26,"is_corresponding":false},{"id":1117580,"name":"Marc Planes","orcid":null,"position":27,"is_corresponding":false},{"id":276268,"name":"Eloise J. Prijoles","orcid":null,"position":28,"is_corresponding":false},{"id":1127932,"name":"Evelise Riberi","orcid":"0000-0002-2451-2452","position":29,"is_corresponding":false},{"id":495323,"name":"Eric T. Rush","orcid":"0000-0002-8147-7315","position":30,"is_corresponding":false},{"id":889458,"name":"Bianca Russell","orcid":"0000-0003-3934-9800","position":31,"is_corresponding":false},{"id":869880,"name":"Rani Sachdev","orcid":"0000-0003-2750-1430","position":32,"is_corresponding":false},{"id":1128271,"name":"Betsy Schmalz","orcid":null,"position":33,"is_corresponding":false},{"id":352435,"name":"Deborah Shears","orcid":null,"position":34,"is_corresponding":false},{"id":633176,"name":"David A. Stevenson","orcid":"0000-0001-8601-0020","position":35,"is_corresponding":false},{"id":571483,"name":"Kate Wilson","orcid":"0000-0002-6050-4054","position":36,"is_corresponding":false},{"id":717913,"name":"Sandra Jansen","orcid":"0000-0001-9453-8124","position":37,"is_corresponding":false},{"id":361000,"name":"Bert B.A. de Vries","orcid":"0000-0002-0000-2917","position":38,"is_corresponding":false},{"id":244100,"name":"Cynthia J. Curry","orcid":null,"position":39,"is_corresponding":false},{"id":282701,"name":"Monica H. Wojcik","orcid":"0000-0002-8162-5031","position":0,"is_corresponding":true}],"reference_count":26,"raw_metadata":null,"created_at":"2026-07-19T01:15:28.704894Z","pmid":"37183572","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":[]}