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 包括轻度到中度的智力迟钝，不寻常的人格特征， 婴儿高钙血症、畸形面部特征和瓣上主动脉 狭窄（SVAS）。WS是一种由亚显微镜下 染色体7q11.23缺失。拟议研究的目标是创建一个 WS的医学和行为特征（“WS的可定量测定 行为特征”），并使用该特征来识别特定基因 WS和携带基因型-表型的潜在行为特征 相关性研究具体目标包括查明和 具有与WS重叠的特征的个体的表征; 2） 鉴定和表征表型的主要特征 WS和具有较小WS缺失的个体的表型; 3） 鉴定负责WS特异性表型特征的基因 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 该地区的基因。最初的具体目标是确定基因负责 WS的人格特征以及其他特定表型 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.