[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"detail-sidebar-cat-0-en-105":3,"doc-seo-452766-105":59,"doc-detail-452766-en":130},{"code":4,"msg":5,"data":6},0,"success",[7,13,18,23,28,33,38,43,48,51,55],{"id":8,"doc_module":4,"doc_module_name":9,"category_name":10,"show_sort_weight":11,"slug":12},1,"Document","Story & Novel",90,"story-novel",{"id":14,"doc_module":4,"doc_module_name":9,"category_name":15,"show_sort_weight":16,"slug":17},2,"Literature",80,"literature",{"id":19,"doc_module":4,"doc_module_name":9,"category_name":20,"show_sort_weight":21,"slug":22},4,"Exam",70,"exam",{"id":24,"doc_module":4,"doc_module_name":9,"category_name":25,"show_sort_weight":26,"slug":27},5,"Comic",60,"comic",{"id":29,"doc_module":4,"doc_module_name":9,"category_name":30,"show_sort_weight":31,"slug":32},6,"Technology",50,"technology",{"id":34,"doc_module":4,"doc_module_name":9,"category_name":35,"show_sort_weight":36,"slug":37},7,"Healthcare",40,"healthcare",{"id":39,"doc_module":4,"doc_module_name":9,"category_name":40,"show_sort_weight":41,"slug":42},8,"Research & Report",30,"research-report",{"id":44,"doc_module":4,"doc_module_name":9,"category_name":45,"show_sort_weight":46,"slug":47},9,"Religion & Spirituality",20,"religion-spirituality",{"id":46,"doc_module":4,"doc_module_name":9,"category_name":49,"show_sort_weight":46,"slug":50},"World Cup","world-cup",{"id":52,"doc_module":4,"doc_module_name":9,"category_name":53,"show_sort_weight":52,"slug":54},10,"Lifestyle","lifestyle",{"id":56,"doc_module":4,"doc_module_name":9,"category_name":57,"show_sort_weight":24,"slug":58},19,"General","general",{"code":4,"msg":60,"data":61},"ok",{"site_id":62,"language":63,"slug":64,"title":65,"keywords":66,"description":67,"schema_data":68,"social_meta":123,"head_meta":125,"extra_data":127,"updated_unix":129},105,"en","whitesutton-syndrome-insight-of-an-italian-cohort-of-19-subjects","White–Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects","","White–Sutton syndrome (WHSUS) is a rare neurodevelopmental disorder caused by pathogenic variants in the POGZ gene. The phenotype includes developmental delay, behavioral dysfunctions, hypotonia, and dysmorphic features, yet comprehensive clinical characterization and genotype–phenotype correlation remain limited. This study reports molecular, clinical, and instrumental findings from the first and largest Italian cohort of 19 patients, emphasizing an extensive diagnostic approach.",{"@graph":69,"@context":122},[70,84,105],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/whitesutton-syndrome-insight-of-an-italian-cohort-of-19-subjects/452766/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/whitesutton-syndrome-insight-of-an-italian-cohort-of-19-subjects/452766.png","ImageObject",300,407,{"name":92,"@type":93},"dawugda","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-10-31","2026-09-30",true,{"@type":102,"interactionType":103,"userInteractionCount":24},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"What causes White–Sutton syndrome (WHSUS)?","Question",{"text":112,"@type":113},"WHSUS is due to pathogenic variants in the POGZ gene, as described in the article.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"What kinds of clinical and diagnostic data are analyzed in this study?",{"text":117,"@type":113},"The study reports molecular, clinical, and instrumental data collected from Italian centers using standardized evaluations and sequencing approaches.",{"name":119,"@type":110,"acceptedAnswer":120},"How were POGZ variants confirmed and classified?",{"text":121,"@type":113},"Variants were confirmed with Sanger validation and classified using ACMG criteria, supported by Human Gene Mutation Database and ClinVar.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},452766,1791343145,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":24,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":29,"language":139,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":140,"faqs":141,"seo_title":142,"seo_description":67,"update_tm":143,"read_time":144,"preview_page_count":4},3985747870947,"https://ap-avatar.wpscdn.com/davatar_3d24733baf745e90a7e4bdd5f77d97b2","Clinical Genetics  \nSHORT REPORT  OPEN ACCESS   \nWhite–Sutton Syndrome: Insight of an Italian Cohort of  \n19 Subjects  \nAnna Facchini1 | Maria Pina Concas1 | Stefania Zampieri1 | Iris Scala2 | Claudio Graziano3 | Anna Maria Innoceta3 | Marina Trivisano4 | Angela De Dominicis4 | Gabriele Trimarchi5 | Livia Garavelli5 | Margherita Baldassarri6,7,8 | Ilaria De Maggio9 | Francesca Mari7,10 | Donatella Greco11 | Paolo Gasparini1,12  \n1Institute for Maternal and Child Health—IRCCS “Burlo Garofolo”, Trieste, Italy | 2Clinical Genetics Unit, Department of Maternal and Child Health, Federico II University Hospital, Naples, Italy | 3U.O. Genetica Medica, AUSL della Romagna, Cesena, Italy | 4Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy | 5Medical Genetics Unit, Dipartimento Materno-Infantile, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy | 6Medical Genetics, University of Siena, Siena, Italy | 7Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, Siena, Italy | 8Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy | 9Medical and Laboratory Genetic Unit, A.O.R.N.“A. Cardarelli”, Naples, Italy | 10UOC Laboratorio di Assistenza e Ricerca Traslazionale, Azienda Ospedaliero-Universitaria Senese, Siena, Italy | 11Pediatrics and Medical Genetics Unit, IRCCS Oasi Maria SS, Troina, Italy | 12University of Trieste, Trieste, Italy  \nCorrespondence: Anna Facchini ([anna.facchini@burlo.trieste.it](anna.facchini@burlo.trieste.it))  \nReceived: 15 May 2025 | Revised: 10 July 2025 | Accepted: 12 July 2025  \nFunding: This work received fundings as part of the project “Implementation of a standardized workflow for a more effective management and care of patients with syndromic and isolated intellectual disability”—PNRR-MR1-2022-12376811—funded by NextGenerationEU on PNRR-Missione 6/Componente 2/Investimento 2.1: “Rafforzamento e potenziamento della ricerca biomedica del SSN”—CUP C93C22009170001 .  \nKeywords: intellectual disability | neurodevelopmental disorders | POGZ | White–Sutton syndrome  \nABSTRACT  \nWhite–Sutton syndrome (WHSUS) is a rare neurodevelopmental disorder due to pathogenic variants in the POGZ gene. Its phenotype includes developmental delay, behavioral dysfunctions, hypotonia, and dysmorphic features. The condition is still poorly known: comprehensive clinical descriptions and exhaustive genotype–phenotype correlations are lacking, limiting diagnostic and therapeutic advancements. Here, we report molecular, clinical, and instrumental data from the first and largest Italian cohort (19 patients) . Our results highlight the importance of an extensive approach at the time of diagnosis—including early nutritional support for preventing obesity-related complications and instrumental screening for congenital malformations. Preliminary data suggest that splicing variants could be associated with more severe phenotypes. This study provides valuable new insights into WHSUS and represents a significant step towards its comprehension.  \n1 | Introduction  \nPOGZ (OMIM \\#614787) has been recently identified as the underlying cause of White–Sutton syndrome (WHSUS, OMIM \\#616364) [1], a rare condition mainly characterized by intellectual disability (ID), developmental delays, behavioral anomalies, such as autistic spectrum disorder, and facial dysmorphic features. Additional manifestations include epilepsy,  \nophthalmological defects, hearing loss, and congenital abnormalities of the central nervous system (CNS), genitourinary tract, or heart. WHSUS severity is largely variable, ranging from mild to severe. POGZ encodes a nuclear protein involved in mitotic progression [2] and chromatin modulation [3] . About a 100 variants are known to date [4] and several studies have investigated genotype–phenotype correlation [4, 5] . Nevertheless, the pathogenic mechanism behind the disease is still unclea","cbCaijfdhE5cAtSH","https://ap.wps.com/l/cbCaijfdhE5cAtSH","pdf",629155,"English","# Introduction\n# Subjects and Methods","[{\"question\":\"What causes White–Sutton syndrome (WHSUS)?\",\"answer\":\"WHSUS is due to pathogenic variants in the POGZ gene, as described in the article.\"},{\"question\":\"What kinds of clinical and diagnostic data are analyzed in this study?\",\"answer\":\"The study reports molecular, clinical, and instrumental data collected from Italian centers using standardized evaluations and sequencing approaches.\"},{\"question\":\"How were POGZ variants confirmed and classified?\",\"answer\":\"Variants were confirmed with Sanger validation and classified using ACMG criteria, supported by Human Gene Mutation Database and ClinVar.\"}]","White–Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects | PDF",1790737666,15]