GENETICS OF TURNER SYNDROME--COGNITIVE/PHYSICAL ASPECTS

特纳综合症的遗传学——认知/身体方面

• 批准号: 6165511
• 负责人: Andrew R. Zinn
• 金额: $ 34.73万
• 依托单位: UT SOUTHWESTERN MEDICAL CENTER
• 依托单位国家: 美国
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-03-01 至 2002-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6165511
• 关键词: Turner's syndrome; aneuploidy; behavioral /social science research tag; body physical characteristic; chromosome deletion; chromosome disorders; clinical research; cognition disorders; cytogenetics; female; genetic disorder; genetic mapping; human subject; karyotype; neuropsychological tests; neuropsychology; phenotype; sex chromosomes; sex linked trait; tissue /cell culture; verbal learning

Turner syndrome is a human genetic disorder involving females who lack all or part of one X chromosome. The principle features are short stature, infertility, and anatomic abnormalities that include webbed neck, congenital heart disease, and renal and skeletal malformations. Selected neurocognitive deficits, including impaired visual-spatial abilities, are also characteristic of Turner syndrome, but global developmental delay is uncommon. As a relatively common genetic disorder with well-defined manifestations, Turner syndrome presents the opportunity to investigate genetic factors that influence female physical and cognitive development There is potentially informative genetic and phenotypic variation among Turner syndrome subjects with partial X deletions (partial monosomy X). Careful clinical and molecular characterization of these unusual subjects who represent "experiments of nature" could link individual Turner syndrome phenotypic features to specific X chromosome regions. Similar studies are in progress for Down syndrome and other chromosome disorders. Turner syndrome is an excellent model for such phenotype mapping studies because of its prevalence, the well-characterized phenotype, and the wealth of molecular resources available for the X chromosome. The disorder is also a model for studying genetic aspects of cognition because of the selective nature of neurocognitive deficits and the relative sparing of verbal abilities. This study will examine approximately 80 partial monosomy X subjects. Each subject will have a thorough clinical evaluation and extensive neurocognitive testing to determine the presence or absence of specific Turner syndrome phenotypic features. Cell lines will be established and used for molecular studies to precisely define the subjects' X deletions. The goal of this study is to define critical regions of the X chromosome for neurocognitive deficits and physical features associated with Turner syndrome. Phenotype mapping of X deletions will be helpful for genetic counseling and for predicting which girls with Turner syndrome are at high risk for learning difficulties; these children and their parents might benefit from extra social, psychological, and educational support. The collection of cell lines will also provide a valuable resource for future studies aimed at identifying specific Turner syndrome genes. Characterization of these genes would provide insight into the pathophysiology of Turner syndrome as well as processes of normal physical and cognitive development.

特纳综合症是一种涉及女性的人类遗传疾病，他们缺乏全部 或一个X染色体的一部分。原理特征是矮小的， 不育和解剖异常，包括织布床， 先天性心脏病，肾脏和骨骼畸形。选定 神经认知缺陷，包括视觉空间能力受损，是 特纳综合症的特征也是 罕见。 作为一种相对常见的遗传疾病，有明确的表现， 特纳综合症为研究遗传因素提供了机会 影响女性的身体和认知发展 特纳的潜在信息遗传和表型变异 具有部分X缺失的综合征受试者（部分单肌X）。小心 这些异常受试者的临床和分子表征 代表“自然实验”可以连接单个特纳综合症 特定X染色体区域的表型特征。类似的研究也是如此 唐氏综合症和其他染色体疾病正在进行中。车工 综合征是此类表型映射研究的绝佳模型，因为 其流行率，良好的表型和财富 可用于X染色体的分子资源。该疾病也是 一个用于研究认知遗传方面的模型，因为选择性 神经认知缺陷的性质和言语的相对保留 能力。 这项研究将检查大约80个部分单肌X受试者。每个 受试者将进行彻底的临床评估和广泛的评估 神经认知测试以确定存在或不存在特定 特纳综合征表型特征。将建立细胞系，并 用于精确定义受试者的X缺失的分子研究。 这项研究的目的是定义X染色体的关键区域 用于与特纳相关的神经认知缺陷和身体特征 综合征。 X缺失的表型映射将有助于遗传 咨询和预测哪些特纳综合症的女孩很高 学习困难的风险；这些孩子和他们的父母可能 受益于额外的社会，心理和教育支持。这 电池系列还将为未来提供宝贵的资源 旨在鉴定特纳综合征基因的研究。 这些基因的特征将提供对 特纳综合征的病理生理学以及正常物理的过程 和认知发展。