{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T21:59:26Z","timestamp":1777499966330,"version":"3.51.4"},"reference-count":51,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,1,23]],"date-time":"2024-01-23T00:00:00Z","timestamp":1705968000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81371215"],"award-info":[{"award-number":["81371215"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81670786"],"award-info":[{"award-number":["81670786"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The genotype\u2013phenotype relationship in PWS patients is important for a better understanding of the clinical phenotype and clinical characteristics of different genotypes of PWS in children. We aimed to explore the influence of specific gene changes on the clinical symptoms of PWS and the value of early screening and early intervention of the condition. All data in this study were extracted from the database of the XiaoPang Weili Rare Disease Care Center. The collected information included basic demographics, maternal pregnancy information, endocrine abnormalities, growth and development abnormalities, and other clinical phenotypes. The relationships between genotypes and phenotypes in the major categories of PWS were analyzed. A total of 586 PWS cases with confirmed molecular diagnosis and genotyping were included in this study. Among them, 83.8% belonged to the deletion type, 10.9% the uniparental disomy (UPD) type, and 5.3% the imprinting defect (ID) type. Age\u2010wide comparison among the three groups: The rate of hypopigmentation in the deletion group was higher than that in the UPD group (88.8% vs. 60.9%; <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05); A total of 62 patients (14.2%) had epilepsy; and no statistical significance was found among the three groups (<jats:italic>p<\/jats:italic>\u2009=\u20090.110). Age\u2010wide comparison between the deletion and non\u2010deletion types: the rate of skin hypopigmentation and epilepsy in the deletion group was significantly higher than that in the non\u2010deletion group (88.8% vs. 68.4%, <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001; 15.9% vs. 7.6%, <jats:italic>p<\/jats:italic>\u2009=\u20090.040). The intergroup comparison for the &gt;2\u2010year age group: there were significant intergroup differences in the language development delay among the three groups (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001). The incidence of delayed language development was the highest in the deletion group, followed by the UPD group, and the lowest in the ID group. The rates of obesity and hyperphagia in the deletion group were also higher than those in the non\u2010deletion group (71.1% vs. 58.9%, <jats:italic>p<\/jats:italic>\u2009=\u20090.041; 75.7% vs. 62.0%, <jats:italic>p<\/jats:italic>\u2009=\u20090.016). There are significant differences in the rates of skin hypopigmentation and language developmental delay among the deletion, UPD, and ID genotypes. The patients with deletion type had significantly higher rates of lighter skin color, obesity, hyperphagia, language developmental delay, and epilepsy. The results of this study will help clinicians better understand the impact of different PWS molecular etiologies on specific phenotypes.<\/jats:p>","DOI":"10.1111\/cge.14477","type":"journal-article","created":{"date-parts":[[2024,1,23]],"date-time":"2024-01-23T08:51:03Z","timestamp":1705999863000},"page":"415-422","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Genotype\u2013phenotype correlation in <scp>Prader\u2010Willi<\/scp> syndrome: A large\u2010sample analysis in China"],"prefix":"10.1111","volume":"105","author":[{"given":"Shujiong","family":"Mao","sequence":"first","affiliation":[{"name":"Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health  Hangzhou China"},{"name":"Department of Pediatrics Affiliated Hangzhou First People's Hospital, School of Medicine, Westlake University  Hangzhou 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