GENOTYPE/PHENOTYPE CORRELATIONS IN WILLIAMS SYNDROME

威廉姆斯综合征的基因型/表型相关性

• 批准号: 6639497
• 负责人: CAROLYN B. MERVIS
• 金额: $ 124.48万
• 依托单位: UNIVERSITY OF LOUISVILLE
• 依托单位国家: 美国
• 财政年份: 1996
• 资助国家: 美国
• 起止时间: 1996-05-17 至 2005-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6639497
• 关键词: Williams syndrome; clinical research; cognition; developmental genetics; developmental neurobiology; echocardiography; gene deletion mutation; genetic disorder; genotype; human subject; hypercalcemia; intelligence; language development; linkage mapping; medical records; memory; mental retardation; neuropsychological tests; personality; phenotype; psychological adaptation; psychometrics

Williams Syndrome (WS) is a complex neurodevelopmental disorder involving mild to moderate mental retardation, an unusual personality profile, infantile hypercalcemia, dysmorphic facial features, and supravalvar aortic stenosis (SVAS). WS is a contiguous gene disorder resulting from submicroscopic deletions of chromosome 7q11.23. The goal of the proposed study is to create a medical and behavioral profile of WS ("a quantifiable assay of the WS behavioral profile") and to use this profile to identify specific genes underlying behavioral features of WS and carryout genotype-phenotype correlation studies. The specific aims include ascertainment and characterization of individuals who have features that overlap with WS; 2) identification and characterization of the cardinal features of the phenotype of WS and phenotypes of individuals with smaller WS deletions; 3) identification of genes responsible for specific phenotypic features of WS through deliniation of a refined physical map of the WS region, cloning and characterization of genomic DNA within this region, and identification of new genes in the region. An initial specific goal is to identify genes responsible for the personality characteristics of WS as well as other specific phenotype features.

威廉姆斯综合症 (WS) 是一种复杂的神经发育障碍 涉及轻度至中度智力障碍、不寻常的性格特征、 婴儿高钙血症、面部特征畸形和瓣上主动脉 狭窄（SVAS）。 WS 是一种由亚显微组织引起的连续基因疾病 染色体 7q11.23 缺失。拟议研究的目标是创建一个 WS 的医学和行为概况（“WS 的可量化分析 行为概况”）并使用此概况来识别特定基因 WS 的潜在行为特征和执行基因型-表型 相关性研究。具体目标包括确定和 具有与 WS 重叠特征的个体的特征描述； 2） 表型主要特征的识别和表征 WS 和具有较小 WS 缺失的个体的表型； 3） 鉴定负责 WS 特定表型特征的基因 通过描绘 WS 区域的精细物理图、克隆和 该区域内基因组 DNA 的表征，以及新的鉴定 该区域的基因。最初的具体目标是确定负责的基因 WS 的人格特征以及其他特定表型 特征。