Abstract：
The genotype-phenotype 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-wide 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%; p < 0.05); A total of 62 patients (14.2%) had epilepsy; and no statistical significance was found among the three groups (p = 0.110). Age-wide comparison between the deletion and non-deletion types: the rate of skin hypopigmentation and epilepsy in the deletion group was significantly higher than that in the non-deletion group (88.8% vs. 68.4%, p < 0.001; 15.9% vs. 7.6%, p = 0.040). The intergroup comparison for the >2-year age group: there were significant intergroup differences in the language development delay among the three groups (p < 0.001). 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-deletion group (71.1% vs. 58.9%, p = 0.041; 75.7% vs. 62.0%, p = 0.016). 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.
摘要：
PWS患者的基因型-表型关系对于更好地了解儿童PWS不同基因型的临床表型和临床特征具有重要意义。目的探讨特定基因改变对PWS临床症状的影响及对病情早期筛查和早期干预的价值。本研究中的所有数据均从小胖维里罕见病护理中心的数据库中提取。收集的信息包括基本的人口统计，孕妇怀孕信息，内分泌异常,生长发育异常，和其他临床表型。分析了PWS主要类别中基因型与表型之间的关系。本研究共纳入586例经分子诊断和基因分型证实的PWS病例。其中,83.8%属于删除型,10.9%单亲二分法(UPD)类型，和5.3%的压印缺陷(ID)类型。三组之间的全年龄比较：缺失组的色素沉着减退率高于UPD组（88.8％vs.60.9%;p<0.05);共62例(14.2%)患者发生癫痫,三组间差异无统计学意义(p=0.110)。缺失与非缺失类型的全年龄比较：缺失组皮肤色素减退和癫痫发生率明显高于非缺失组(88.8%vs.68.4%,p<0.001；15.9%vs.7.6%,p=0.040)。>2岁年龄组的组间比较:三组间语言发育延迟存在显著组间差异(p<0.001)。在缺失组中，语言发育迟缓的发生率最高，紧随其后的是UPD小组，和ID组中最低的。缺失组的肥胖和饮食过多发生率也高于非缺失组(71.1%vs.58.9%,p=0.041;75.7%vs.62.0%,p=0.016)。缺失者之间的皮肤色素沉着不足和语言发育迟缓的发生率存在显着差异，UPD,和ID基因型。缺失型患者皮肤颜色较浅的比例明显较高，肥胖，食欲亢进,语言发育迟缓，和癫痫。这项研究的结果将帮助临床医生更好地了解不同PWS分子病因对特定表型的影响。
