{"doi":"10.1111/cge.70039","title":"<scp>HYPK</scp> ‐Related Neurodevelopmental Syndrome: Case Report of Intellectual Disability, Developmental Delay, and Dysmorphic Features","abstract":"HYPK is a critical modulator and inhibitor of the NatA complex. Here, we report a male proband with a de novo HYPK variant presenting with developmental delay, autism, and facial dysmorphia. Biochemical analyses show that this pathogenic variant enhances the inhibitory activity of HYPK on NatA-mediated N-terminal protein acetylation. Our findings provide the first phenotypic characterization of a pathogenic HYPK variant and elucidate its molecular basis, which will facilitate future diagnosis and management in similar cases worldwide.","journal":"Clinical Genetics","year":2025,"id":536465,"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":1,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9519,"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":1276037,"name":"Rikhil Makwana","orcid":null,"position":1,"is_corresponding":false},{"id":588447,"name":"Elaine Marchi","orcid":null,"position":2,"is_corresponding":false},{"id":1421282,"name":"Ziyi Fan","orcid":"0000-0003-3793-2445","position":3,"is_corresponding":false},{"id":1421795,"name":"Erin Falsey","orcid":null,"position":4,"is_corresponding":false},{"id":876954,"name":"Beatriz Menéndez","orcid":null,"position":5,"is_corresponding":false},{"id":1421283,"name":"Philip F. Giampietro","orcid":"0000-0001-5151-6152","position":6,"is_corresponding":false},{"id":286603,"name":"Ingrid M. Wentzensen","orcid":"0000-0001-6994-1640","position":7,"is_corresponding":false},{"id":815469,"name":"Tzung‐Chien Hsieh","orcid":"0000-0003-3828-4419","position":8,"is_corresponding":false},{"id":344909,"name":"Shu‐ou Shan","orcid":"0000-0002-6526-1733","position":9,"is_corresponding":false},{"id":291854,"name":"Gholson J. Lyon","orcid":"0000-0002-5869-0716","position":10,"is_corresponding":false},{"id":1293496,"name":"Rahi Patel","orcid":"0000-0001-8687-1197","position":0,"is_corresponding":true}],"reference_count":15,"raw_metadata":null,"created_at":"2026-07-19T02:52:05.227140Z","pmid":"40986405","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":[]}