{"doi":"10.1002/ajmg.a.64070","title":"A Case of Prader‐Willi Syndrome With a Deletion Including <scp><i>MAGEL2</i></scp>, <scp><i>NDN</i></scp>, and <scp><i>MKRN3</i></scp>, but Excluding <scp><i>SNRPN</i></scp> and <scp><i>SNORD116</i></scp>","abstract":"<jats:title>ABSTRACT</jats:title><jats:p>Prader‐Willi syndrome (PWS) is a neurodevelopmental disorder typically caused by large deletions or imprinting defects on chromosome 15q11.2, encompassing multiple genes. While the contribution of individual genes to the PWS phenotype remains unclear, previous studies suggested that isolated deletions of <jats:italic>MAGEL2</jats:italic>, <jats:italic>NDN</jats:italic>, and <jats:italic>MKRN3</jats:italic>, excluding the <jats:italic>SNRPN</jats:italic>/<jats:italic>SNORD116</jats:italic> locus, were insufficient to cause PWS. Here, we present a case report of a patient with an isolated deletion of <jats:italic>MAGEL2</jats:italic>, <jats:italic>NDN</jats:italic>, and <jats:italic>MKRN3</jats:italic> who exhibits the full PWS phenotype, including neonatal hypotonia, developmental delay, hyperphagia, obesity, and behavioral issues. We explore the potential mechanisms underlying this case and investigate the potential contribution of the deleted genes to the observed phenotype. This case challenges previous findings and highlights the complexity of genotype–phenotype correlations in PWS. We compare the clinical data of our patient with previous reports and discuss the discrepancy with earlier findings. Our findings underscore the need for further research to fully elucidate the roles of individual genes within the PWS locus and the mechanisms underlying the phenotypic spectrum of this complex disorder.</jats:p>","journal":"American Journal of Medical Genetics Part A","year":2025,"id":622884,"datarank":0.26876392038420827,"base_score":1.791759469228055,"endowment":1.791759469228055,"self_citation_contribution":0.26876392038420827,"citation_network_contribution":0.0,"self_endowment_contribution":0.26876392038420827,"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":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":164401,"name":"Yu An","orcid":null,"position":1,"is_corresponding":false},{"id":1550751,"name":"Weimin Bi","orcid":null,"position":2,"is_corresponding":false},{"id":959310,"name":"Katrin Hinderhofer","orcid":"0000-0003-1493-4608","position":3,"is_corresponding":false},{"id":1009573,"name":"Susanne Theiß","orcid":null,"position":4,"is_corresponding":false},{"id":278328,"name":"Anne Slavotinek","orcid":"0000-0001-7053-2449","position":5,"is_corresponding":false},{"id":55853,"name":"Christian P. Schaaf","orcid":"0000-0002-2148-7490","position":6,"is_corresponding":false},{"id":1609605,"name":"Jannis Buecking","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"A Case of Prader‐Willi Syndrome With a Deletion Including <scp><i>MAGEL2</i></scp>, <scp><i>NDN</i></scp>, and <scp><i>MKRN3</i></scp>, but Excluding <scp><i>SNRPN</i></scp> and <scp><i>SNORD116</i></scp>","abstract":"<jats:title>ABSTRACT</jats:title><jats:p>Prader‐Willi syndrome (PWS) is a neurodevelopmental disorder typically caused by large deletions or imprinting defects on chromosome 15q11.2, encompassing multiple genes. While the contribution of individual genes to the PWS phenotype remains unclear, previous studies suggested that isolated deletions of <jats:italic>MAGEL2</jats:italic>, <jats:italic>NDN</jats:italic>, and <jats:italic>MKRN3</jats:italic>, excluding the <jats:italic>SNRPN</jats:italic>/<jats:italic>SNORD116</jats:italic> locus, were insufficient to cause PWS. Here, we present a case report of a patient with an isolated deletion of <jats:italic>MAGEL2</jats:italic>, <jats:italic>NDN</jats:italic>, and <jats:italic>MKRN3</jats:italic> who exhibits the full PWS phenotype, including neonatal hypotonia, developmental delay, hyperphagia, obesity, and behavioral issues. We explore the potential mechanisms underlying this case and investigate the potential contribution of the deleted genes to the observed phenotype. This case challenges previous findings and highlights the complexity of genotype–phenotype correlations in PWS. We compare the clinical data of our patient with previous reports and discuss the discrepancy with earlier findings. Our findings underscore the need for further research to fully elucidate the roles of individual genes within the PWS locus and the mechanisms underlying the phenotypic spectrum of this complex disorder.</jats:p>","is_dataset_classified":null,"base_score":1.6094379124341003,"endowment":1.6094379124341003,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"40231584","pmcid":null,"openalex_id":"https://openalex.org/W4409444290","authors":[],"funders":[],"total_grants":0,"fwci":3.9018,"citation_percentile":0.93008646,"influential_citations":0,"citation_trend":[{"year":2025,"count":1},{"year":2026,"count":3}],"oa_status":"hybrid","license":"cc-by","oa_locations":[{"url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.64070","host_type":"journal"},{"url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.64070","host_type":"publisher"},{"url":"https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.64070","host_type":"publisher"},{"url":"https://doi.org/10.1002/ajmg.a.64070","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/40231584","host_type":"repository"}],"fields_of_study":["Genetic Syndromes and Imprinting","Epigenetics and DNA Methylation","Genetics and Neurodevelopmental Disorders","Humans","Chromosomes, Human, Pair 15","Gene Deletion","Genetic Association Studies","Nerve Tissue Proteins","Phenotype","Prader-Willi Syndrome","Proteins","Ribonucleoproteins","RNA, Small Nucleolar","snRNP Core Proteins","Ubiquitin-Protein Ligases","Intracellular Signaling Peptides and Proteins","Intrinsically Disordered Proteins"],"mesh_terms":["Child, Preschool","Chromosomes, Human, Pair 15","Female","Humans","Male","Nerve Tissue Proteins","Phenotype","Prader-Willi Syndrome","Proteins","Ribonucleoproteins","Gene Deletion","RNA, Small Nucleolar","Ubiquitin-Protein Ligases","Intracellular Signaling Peptides and Proteins","snRNP Core Proteins","Genetic Association Studies","Intrinsically Disordered Proteins"],"keywords":["Phenotype","Locus (genetics)","Genetics","Gene","Hypotonia","Imprinting (psychology)","Genomic imprinting","Biology","Gene expression","Ndn","Magel2","Mkrn3","Prader‐willi Syndrome","Schaaf‐yang Syndrome","Snord116","Snord115"],"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":"2026-08-03T21:25:40.178594Z","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":[]}