PRADER-WILLI SYNDROME AND EARLY-ONSET MORBID OBESITY NATURAL HISTORY CLINICAL PR

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 作为NIH赞助的罕见疾病临床研究网络(RDCRN)的一部分，这项研究的目标是获得大量受Prader-Willi综合征(PWS)影响的个人的详细纵向自然历史数据，以及在较小程度上非由PWS引起的早期病态肥胖(EMO)的个人。最终的希望是，这个经过充分研究的人群将为未来这两种疾病的诊断、治疗和基因-表型相关性提供数据。 Prader-Willi综合征(PWS)是一种复杂的神经行为综合征，其主要临床特征包括肥胖、吞噬功能亢进、低眼压、认知障碍、明显的行为表型、性腺功能低下和新生儿发育不良。该基因缺陷位于染色体15q11-q13的2兆碱基区域。这是一种连续的基因综合征，几个基因的表达缺失导致了完整的表型。由于PWS是病态肥胖最常见的遗传原因，越来越多的病态肥胖儿童被转介到儿科遗传学和儿科内分泌学进行评估。这些儿童中的许多在临床上和分子上都没有PWS。我们将这些人称为早期病态肥胖(EMO)人群。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The goal of this study, as a component of the NIH-sponsored Rare Diseasese Clinical Research Network (RDCRN), is to obtain detailed longitudinal natural history data on a large population of individuals affected by Prader-Willi syndrome (PWS) and, to a lesser extent, individuals who have Early Morbid Obesity (EMO) not due to PWS. The ultimate hope is that this well-studied population will provide data to be used in future for diagnostics, therapies and genotype-phenotype correlations for these two diseases. Prader-Willi syndrome (PWS) is a complex neurobehavioral syndrome whose main clinical features include obesity, hyperphagia, hypotonia, cognitive impairment, a distinct behavioral phenotype, hypogonadism, and neonatal failure-to-thrive. The genetic defect has been localized to a 2 megabase region of chromosome 15q11-q13. It is a contiguous gene syndrome with the loss of expression of several genes resulting in the complete phenotype. As PWS is the most common recognized genetic cause of morbid obesity, a growing number of morbidly obese children are being referred to pediatric genetics and pediatric endocrinology for evaluation of PWS. Many of these children clinically and molecularly do not have PWS. We refer to these individuals as the Early Morbid Obesity (EMO) population.