PHENOTYPE AND ETIOLOGY OF PALLISTER/HALL SYNDROME

帕利斯特/霍尔综合征的表型和病因

• 批准号: 6290269
• 负责人: LESLIE G BIESECKER
• 金额: --
• 依托单位: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/6290269
• 关键词: child (0-11); clinical research; congenital brain disorder; congenital gastrointestinal disorder; congenital skeletal disorder; developmental genetics; endocrine disorder; family genetics; gene expression; genetic disorder; human genetic material tag; human subject; human tissue; hypopituitarism; linkage mapping; pathologic process; phenotype; syndrome

The project is oriented towards the clinical and molecular characterization of patients with Pallister-Hall syndrome and related disorders. In this protocol we perform clinical characterization including radiologic and magnetic imaging, clinical examination, interviews, behavioral and psychiatric evaluation, airway imaging, and other studies. The goal is to document the natural history and range of expressivity of PHS. In addition, we are recruiting patients who have disorders that are related to PHS, either because they are known to be allelic or they have phenotypic overlap. The molecular characterization seeks to define the range of mutations that cause PHS and related disorders. Specifically, how those mutations relate to specific phenotypic effects and to the cell biologic effects of normal and mutant GLI3. - Human Subjects & Human Subjects: Interview, Questionaires, or Surveys Only

该项目旨在研究Pallister-Hall综合征和相关疾病患者的临床和分子特征。在该方案中，我们进行临床表征，包括放射和磁成像、临床检查、访谈、行为和精神评估、呼吸道成像和其他研究。目的是记录小灵通的自然历史和表达能力的范围。此外，我们正在招募患有与PHS相关的疾病的患者，要么是因为他们是已知的等位基因，要么是因为他们有表型重叠。分子特征试图定义导致PHS和相关疾病的突变范围。具体地说，这些突变如何与特定的表型效应以及正常和突变的GLI3的细胞生物学效应有关。-人类受试者和人类受试者：仅限采访、问卷调查或调查