{"doi":"10.1111/cge.70101","title":"Detection of the Heterozygous Recurrent <scp> <i>MAX</i> </scp> p.( <scp>Arg60Gln</scp> ) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome","abstract":"A recurrent de novo germline variant in the MAX gene, p.(Arg60Gln), has recently been associated with polydactyly-macrocephaly syndrome in six unrelated individuals. Affected individuals presented with progressive macrocephaly, post-axial polydactyly, developmental delay, autistic features and a series of craniofacial, brain, cardiac, ocular, and renal anomalies. Here, we describe two unrelated female probands with the known recurrent MAX variant, c.179G>A p.(Arg60Gln), who presented with the emerging phenotypes of the MAX-associated syndrome. We also propose that genitourinary abnormalities, including Mayer-Rokitanski-Kuster-Hauser syndrome in one individual, may constitute an expansion of the known phenotype. These findings contribute to the current knowledge regarding the phenotypic spectrum of MAX-associated polydactyly-macrocephaly syndrome.","journal":"Clinical Genetics","year":2025,"id":580417,"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":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9536,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1491654,"name":"Neta Feinstein‐Goren","orcid":null,"position":1,"is_corresponding":false},{"id":347908,"name":"Lior Greenbaum","orcid":"0000-0001-6176-0941","position":2,"is_corresponding":false},{"id":479528,"name":"Ortal Barel","orcid":"0000-0003-1168-9758","position":3,"is_corresponding":false},{"id":1243571,"name":"Daniel C. Koboldt","orcid":"0000-0003-3204-3067","position":4,"is_corresponding":false},{"id":481489,"name":"Samantha A. Brugmann","orcid":"0000-0002-6860-6450","position":5,"is_corresponding":false},{"id":920021,"name":"Kathryn Nicole Weaver","orcid":null,"position":6,"is_corresponding":false},{"id":1389120,"name":"Anne Slavotinek","orcid":"0009-0004-4069-7778","position":7,"is_corresponding":false},{"id":678680,"name":"Ben Pode‐Shakked","orcid":"0000-0001-6017-9629","position":8,"is_corresponding":false},{"id":394506,"name":"Rolf W. Stottmann","orcid":"0000-0003-4512-6806","position":9,"is_corresponding":false},{"id":488650,"name":"Iftekhar A. Showpnil","orcid":"0000-0002-3168-8114","position":0,"is_corresponding":true}],"reference_count":18,"raw_metadata":null,"created_at":"2026-07-19T02:58:38.868285Z","pmid":"41203296","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":[]}