GENOTYPE/PHENOTYPE CORRELATIONS IN WILLIAMS SYNDROME

威廉姆斯综合征(WS)是一种复杂的神经发育障碍 涉及轻度到中度精神发育迟缓，不寻常的个性特征， 婴儿高钙血症、面部畸形和瓣膜上动脉 狭窄(SVAS)。WS是一种由亚微结构引起的邻接性基因疾病 染色体7q11.23的缺失。拟议研究的目标是创建一个 WS的医学和行为描述(“WS的可量化分析 行为特征“)，并使用该特征来识别特定的基因 WS的潜在行为特征及其携带的基因-表型 相关性研究。具体目标包括确定和 具有与WS重叠的特征的个人的特征描述；2) 表型基本特征的鉴定与表征 WS和WS缺失较少个体的表型；3) WS特异性表型相关基因的鉴定 通过勾画WS区域的精细物理地图，克隆和 该区域内基因组DNA的特征，以及新的 该区域的基因。最初的具体目标是确定负责的基因。 对于WS的人格特征以及其他特定的表型 功能。

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.