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: 7950581
• 负责人: LISA WANG
• 金额: $ 0.21万
• 依托单位: BAYLOR COLLEGE OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-12-01 至 2009-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7950581
• 关键词: Affect; Bloom Syndrome; Cellular Assay; Clinical; Clinical Research; 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.

该副本是利用众多研究子项目之一 由NIH/NCRR资助的中心赠款提供的资源。子弹和 调查员（PI）可能已经从其他NIH来源获得了主要资金， 因此可以在其他清晰的条目中代表。列出的机构是 对于中心，这不一定是调查员的机构。 Rothmund-Thomson综合征（RTS）是一种罕见的遗传疾病，具有多种临床特征，包括明显的癌症易感性。患有RT的人可能只有几个或许多临床特征。 RT的诊断有时很难，因为没有诊断性的实验室测试或细胞测定法，并且临床表现可能是Quiable Varible。在某些RTS患者中，发现一种基因RecQL4被发现突变。然而，RT中的全部突变谱尚未完全表征，并且尚未确定基因型/表型的相关性。 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共享临床特征，包括巨大的癌症风险。 最近，已经完成了许多工作，以促进对这些其他疾病所涉及的分子途径的理解，并且有关这些其他相关疾病的更多临床信息。相比之下，关于RT的了解少得多，并且没有据报道RT的大规模临床或分子研究。由于RTS在全球范围内是一种罕见的疾病，因此累积了受影响的患者及其亲戚，积累了相关的医疗信息，并收集生物标本成为艰巨的任务。这项研究将使研究人员能够将带有RT的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学样本，然后可以将其用于分子和遗传研究。这些研究将使人们更好地了解与RTS相关的临床问题以及对这种异质疾病的基础的遗传缺陷。