Newborn Screening for Fragile X

新生儿脆性 X 线筛查

• 批准号: 7707262
• 负责人: FLORA TASSONE
• 金额: $ 15.28万
• 依托单位: UNIVERSITY OF WASHINGTON
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-07-01 至 2009-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7707262
• 关键词: 5' Untranslated Regions; Academic Medical Centers; Accounting; African American; Age; Age-Years; Aging; Alleles; Appendix; Asians; Attention deficit hyperactivity disorder; Autistic Disorder; Autoimmune Process; Back; Behavioral; Blood; Blood Banks; CGG repeat; California; Caucasians; Caucasoid Race; Chicago; Child; Classification; Clinical; Cognitive; Counseling; Data; Detection; Development; Developmental Delay Disorders; Diagnosis; Disease; Early Diagnosis; Early Intervention; Emotional; Endocrine; Ethnic group; Extended Family; FMR1 Gene; FXTAS; Family; Family Planning; Family member; Female; Fibromyalgia; Fragile X Mental Retardation Protein; Fragile X Syndrome; Frequencies; Gene Frequency; Gene Mutation; Gene Proteins; General Population; Genes; Genetic Counseling; Genetic screening method; Health system; Hispanics; Individual; Infant; Inherited; Institutes; Intervention; Language; Learning Disabilities; Life; Medical; Mental Retardation; Messenger RNA; Methodology; Methods; Methylation; Mild mental retardation; Mind; Modality; Modeling; Molecular; Monitor; Motor; Mutation; Neonatal Screening; Neurologic; Neuropathy; Newborn Infant; Numbers; Pan Genus; Phenotype; Population; Pregnancy; Premature Ovarian Failure; Prevalence; Primary Health Care; Protocols documentation; Provider; Public Health; Range; Reporting; Research Infrastructure; Resources; Screening procedure; Severities; Social Development; Spottings; Technology; Testing; Thyroiditis; Time; Toddler; Trinucleotide Repeat Expansion; Universities; Visual attention; Woman; autism spectrum disorder; base; disorder risk; early childhood; insight; male; proband; programs; protein expression; psychologic; racial and ethnic; sex; size; social; socioeconomics; visual process; visual processing

PROJECT V: FLORA TASSONE - UNIVERSITY OF CALIFORNIA, DAVIS - M.I.N.D INSTITUTE NEWBORN SCREENING FOR FRAGILE X Fragile X syndrome (FXS) is the most common inherited cause of mental retardation, and the most common single gene mutation associated with autism. It is caused by a trinucleotide repeat expansion (CGG)n in the 5* untranslated region of the fragile X mental retardation 1 gene (FMR1) located at Xq27.3. Over the last several years, there has been increasing insight into the spectrum of the phenotypes associated with both the premutation and the full mutation. Screening for FMR1 mutations has been a topic of considerable discussion since the FMR1 gene was identified. Advances in understanding the molecular basis of fragile X syndrome and advances in genetic testing methods have elicited new prospects for identifying a greater number of individuals at risk for the disorder or transmitting the disorder. Newborn screening for FMR1 mutations could potentially fit into the established public health infrastructure for existing newborn screening programs, however early childhood developmental intervention strategies must be developed and resources available to children who are diagnosed with FMR1 mutations.There are early intervention protocols, focusing on language, motor, social and cognitive development, that have demonstrated efficacy in infants and toddlers with developmental delays and/ or mild mental retardation. Early diagnosis will enable a family to obtain genetic counseling at a time that will make a difference for subsequent pregnancies and will therefore allow family planning. In addition, all families identified through newborn screening will require genetic counseling and cascade testing for other family members. Finally, there has been no systematic screen for the frequency of expanded alleles of the FMR1 gene in the US. Acquisition of (accurate estimates of frequency of FMR1 mutations in the general population (one of the objective of the current proposal) are needed to better estimate fragile X allele frequencies for all racial and ethnic groups.

项目V：Flora Tassone-加利福尼亚大学戴维斯分校-M.I.N.D Institute 脆弱X的新生儿筛选 脆弱的X综合征（FXS）是智力低下的最常见的原因，也是最常见的原因 常见的单基因突变与自闭症相关。它是由三核苷酸重复膨胀引起的 （CGG）n在 5*位于XQ27.3的脆弱X智力低下1基因（FMR1）的未翻译区域。 在过去的几年中，人们对表型的光谱有所洞察 与预测和完整突变有关。 FMR1突变的筛查一直是 自从发现FMR1基因以来，讨论的主题很大。理解 脆弱X综合征的分子基础和基因检测方法的进步引起了新的 识别有疾病风险或传播该疾病风险的更多人的前景。 FMR1突变的新生儿筛查可能有可能适合已建立的公共卫生基础设施 对于现有的新生儿筛查计划，多么幼儿发展干预策略 必须开发并为被诊断为FMR1突变的儿童提供资源。 是早期干预方案，专注于语言，运动，社会和认知发展， 在婴儿和幼儿发育迟缓和/或轻度智力低下的婴儿中表现出功效。 早期诊断将使家庭能够在一次有所作为的时候获得遗传咨询 随后的怀孕，因此将允许计划生育。此外，所有家庭都通过 新生儿筛查将需要对其他家庭成员进行遗传咨询和级联测试。 最后，没有系统的屏幕，即FMR1基因扩展等位基因的频率 美国。获取（准确估计一般人群中FMR1突变频率（一个） 需要当前建议的目的）以更好地估计所有人的脆弱X等位基因频率 种族和种族。