NEUROGLYCOPENIA--GENOTYPE/PHENOTYPE CORRELATION

描述：本提案的目标是系统地研究 神经低血糖症患者队列以确定是否存在表型 与 GLUT-1 基因（葡萄糖）的特定缺陷相关 已发现 5 种转运蛋白具有点突变或无义突变 到目前为止已有 17 名患者。此外，GLUT-1核型重排具有 在两名患者身上发现。这些发现表明，突变导致 GLUT-1 活性的丧失与表型的发生有关。的 第一个目标将对现有患者进行基因型分析 以及新患者的可用率大约为 4/年。目标 2 的重点是广泛描述 现有患者和新患者的表型。目标 3 将是开发 GLUT-1 通过同源重组对有缺陷的小鼠进行 这些动物的神经病理学分析。

DESCRIPTION: The goal of this proposal are to systematically study a cohort of neuroglycopenia patients to determine if there is a phenotypic correlation with specific defects in the GLUT-1 gene, a glucose transported that has been found to have point or nonsense mutations in 5 or 17 patients so far. In addition, GLUT-1 karyotypic rearrangements have found in two patients. These findings indicate that mutations which result in a loss of GLUT-1 activity are linked to the onset of the phenotype. The first Aim will be carry out genotypic analysis on the existing patients and on new patients as they become available at a rate of approximately 4/year. The focus of Aim 2 will be an extensive characterization of the phenotype of existing and new patients. Aim 3 will be to develop GLUT-1 deficient mice by homologous recombination and to carry out a neuropathological analysis of these animals.