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: 6130614
• 负责人: CAROLYN B. MERVIS
• 金额: $ 119.74万
• 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/6130614
• 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.

威廉姆斯综合征（WS）是一种复杂的神经发育障碍 涉及轻度至中度的智力低下，不寻常的个性概况， 婴儿高钙血症，畸形面部特征和肩部主动脉 狭窄（SVA）。 WS是由亚显微镜产生的连续基因疾病 7q11.23染色体的缺失。拟议的研究的目的是创建一个 WS的医学和行为概况（“ WS的可量化测定法 行为概况”）并使用此配置文件来识别特定基因 WS的基本行为特征和携带基因型 - 表型 相关研究。具体目的包括确定和 具有与WS重叠的个人的表征； 2） 表型的基本特征的识别和表征 WS缺失较小的个体的WS和表型； 3） 识别负责WS特定表型特征的基因 通过描绘WS区域的精致物理图，克隆和 基因组DNA在该区域内的表征，并鉴定了新的 该地区的基因。最初的特定目标是确定负责的基因 对于WS和其他特定表型的人格特征 特征。