METHOD FOR PREDICTING RISK OF PORENCEPHALY OR CEREBRAL HEMORRHAGE

摘要

As a result of intensive screening on mutations of the COL4A2 gene in 35 Japanese patients with porencephaly, it was found that the COL4A2 gene is a causative gene for familial and sporadic porencephalies. Since an identical heterozygous mutation of the COL4A2 gene was found in both a porencephaly patient and healthy individuals, this pathogenic mutation is considered to be dominantly inherited with incomplete penetrance. It can be predicted that a living body having a COL4A2 gene mutation has a high risk of occurrence of porencephaly and/or cerebral hemorrhage.