Hereditary Disorders of Connective Tissue--Clinical and Molecular Studies

结缔组织遗传性疾病——临床和分子研究

• 批准号: 6433634
• 负责人: Clair A. Francomano
• 金额: --
• 依托单位: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/6433634
• 关键词: Marfan syndrome; achondroplasia; child (0-11); clinical research; collagen disorder; congenital skeletal disorder; connective tissue disorder; fibrillin; gene mutation; genetic disorder; genetics; human genetic material tag; human subject; human tissue; linkage mapping; molecular cloning; molecular genetics; molecular pathology

"Patients with Marfan syndrome and related conditions (MASS phenotype, mitral valve prolapse syndrome, familial aortic dissection), Ehlers- Danlos syndrome and Stickler syndrome are being seen in the NHGRI Genetics Clinic. Clinical data collected include detailed information on skeletal, ocular and cardiovascular manifestations in each patient. Skin biopsies and blood samples for DNA analysis are being collected to enable correlation of clinical observations with specific biochemical and molecular findings. Additionally, clinical data will be analyzed to assess the validity of proposed new diagnostic criteria for Marfan syndrome. To date, mutations have been found in 8 families with Stickler syndrome. Extensive clinical information has been collected 79 patients with Ehlers-Danlos syndrome, 128 patients with Stickler syndrome, and 47 patients with Marfan syndrome. A new clinical phenotype, involving overlap between Marfan, Stickler and Ehlers-Danlos syndrome, has been recognized and is being characterized at the clinical and molecular levels. - Marfan syndrome, Ehlers-Danlos syndrome, Stickler syndrome, skeletal, ocular, cardiovascular - Human Subjects

“患有马凡综合征和相关疾病（MASS表型、二尖瓣脱垂综合征、家族性主动脉夹层）、埃勒斯-丹洛斯综合征和斯蒂克勒综合征的患者正在NHGRI遗传学诊所接受治疗。收集的临床数据包括每例患者骨骼、眼部和心血管表现的详细信息。正在收集皮肤活组织检查和血液样本进行DNA分析，以便将临床观察结果与特定的生化和分子结果相关联。此外，将分析临床数据，以评估拟议的马凡氏综合征新诊断标准的有效性。迄今为止，已在8个Stickler综合征家族中发现突变。收集了79例Ehlers-Danlos综合征患者、128例Stickler综合征患者和47例Marfan综合征患者的广泛临床信息。一种新的临床表型，涉及马凡氏综合征，Stickler和Ehlers-Danlos综合征之间的重叠，已被确认，并正在临床和分子水平上进行表征。- 马凡综合征、埃勒斯-当洛斯综合征、斯蒂克勒综合征、骨骼、眼、心血管-人类受试者