METHOD FOR DETECTING NEONATAL TO CHILDHOOD-ONSET CEREBRAL SMALL BLOOD VESSEL DISEASE OR CARRIERS THEREOF

摘要

To provide novel indicators that enable definitive diagnosis even in cases of neonatal to childhood-onset cerebral small blood vessel disease genetically unexplained due to no mutations in known responsible genes.SOLUTION: The present inventors earnestly carried out an analysis using whole exome in two families in which patients with neonatal to childhood-onset cerebral small vessel disease are generated, and revealed that this disease is caused by biallelic mutations in the COLGALT1 gene. Furthermore, we have confirmed that three missense mutations identified in the patients adversely affect the enzymatic activity of ColGalT1, resulting in impaired normal production and secretion of COL4A1, and actually lowered the enzymatic activity of ColGal T1 in patients, and found out that improving vascular fragility by supplementing with ColGal T1 will enable treatment of this disease.SELECTED DRAWING: Figure 1