Method for predicting risk of porencephaly or cerebral hemorrhage
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United States of America Patent
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Feb 28, 2017
Grant Date -
Oct 23, 2014
app pub date -
Oct 29, 2012
filing date -
Nov 11, 2011
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Abstract
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.
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