THE MOLECULAR BASIS AND CLINICAL SPECTRUM OF ROTHMUND-THOMSON SYNDROME

罗斯蒙-汤姆森综合征的分子基础和临床谱

• 批准号: 8166648
• 负责人: LISA WANG
• 金额: $ 0.19万
• 依托单位: BAYLOR COLLEGE OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-12-01 至 2010-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8166648
• 关键词: Affect; Bloom Syndrome; Cellular Assay; Clinical; Computer Retrieval of Information on Scientific Projects Database; Diagnosis; Diagnostic; Disease; Family; Funding; Genes; Genotype; Grant; Hereditary Disease; Individual; Institution; Investigation; Laboratories; Lead; Malignant Neoplasms; Medical; Molecular; Molecular Genetics; Mutate; Mutation; Mutation Spectra; Pathway interactions; Patients; Phenotype; Predisposition; Rare Diseases; Relative (related person); Reporting; Research; Research Personnel; Resources; Rothmund-Thomson syndrome; Sampling; Source; Specimen; Testing; United States National Institutes of Health; Werner Syndrome; Work; base; cancer risk; helicase

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Rothmund-Thomson Syndrome (RTS) is a rare genetic disorder with multiple clinical features including a significant cancer predisposition. Individuals with RTS may have just a few or many clinical features. Diagnosis of RTS is sometimes difficult since there is no laboratory test or cellular assay which is diagnostic, and the clinical presentation can be quiate variable. One gene, RecQL4, has been found to be mutated in some RTS patients. However, the full spectrum of mutations in RTS has not been fully characterized, and genotype/phenotype coreelations have yet to be established. Other disorders in the RecQ helicase family include Bloom Syndrome and Werner Syndrome, which share clinical features with RTS, including significant cancer risk. Much work has been done recently to advance the understanding of the molecular pathways involved in these other disorders, and much more clinical information is known about these other related disorders. In contrast, much less is known about RTS, and no large scale clinical or molecular study of RTS has been reported. Because RTS is a rare disorder worldwide, accruing affected patients and their relatives, accumulating pertinent medical information, and collecting biologic specimens become difficult tasks. This study would allow investigators to bring subjects with RTS to the study institution in order to perform comprehensive clinical and laboratory investigation and to collect biologic samples, which can then be used for molecular and genetic studies. These studies will lead to better understanding of the clinical problems associated with RTS and of the genetics defects which underlie this heterogeneous disorder.

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 Rothmund-Thomson综合征（RTS）是一种罕见的遗传性疾病，具有多种临床特征，包括显著的癌症易感性。患有RTS的个体可能只有几个或多个临床特征。RTS的诊断有时是困难的，因为没有实验室检查或细胞检测是诊断性的，临床表现可以是quiate变量。其中一个基因RecQL 4在一些RTS患者中被发现发生突变。然而，RTS突变的全谱尚未完全表征，基因型/表型核心关系尚未建立。RecQ解旋酶家族中的其他疾病包括Bloom综合征和Werner综合征，它们与RTS具有共同的临床特征，包括显著的癌症风险。 最近已经做了大量的工作，以促进对这些其他疾病中所涉及的分子途径的理解，并且对这些其他相关疾病的临床信息了解得更多。相反，对RTS的了解要少得多，并且没有大规模的RTS临床或分子研究报道。由于RTS是一种罕见的疾病，在世界范围内，积累受影响的患者及其亲属，积累相关的医疗信息，并收集生物标本成为困难的任务。本研究将允许研究者将RTS受试者带到研究机构，以进行全面的临床和实验室研究，并收集生物样本，然后用于分子和遗传研究。这些研究将导致更好地了解与RTS相关的临床问题和这种异质性疾病背后的遗传缺陷。