Research Paper: 

2015 Takenouchi

Date Published : 

01/01/2015

Summary

Porencephaly in a Fetus and HANAC in Her Father: Variable Expression of COL4A1 Mutation

Excerpt

COL4A1-associated disorders encompass a wide range of hereditary vasculopathy, including porencephaly and HANAC (adult- onset hemorrhagic stroke with cerebral aneurysm and retinal arterial tortuosity, renal cysts, and thenar muscle cramp). It remains elusive whether or not porencephaly and HANAC are molecularly distinctive disorders due to different classes of mutations. We report on a girl with porencephaly and an episode of microangiopathic hemolysis in infancy and her father with HANAC, both of whom had a heterozygous missense mutation of COL4A1 (c.3715G>A, p.G1239R). The current observation implies phenotypic diversities of COL4A1 mutations.

Porencephaly in a Fetus and HANAC in Her Father: Variable Expression of COL4A1 Mutation
Download

Gould Syndrome Foundation

We are a registered 501(c)3 Nonprofit dedicated to providing hope and help to children and adults with Gould Syndrome; affecting COL4A1 and COL4A2 genes.
Gould Syndrome Foundation badge
© Copyright 2021by Gould Syndrome Foundation - Website by Selser Media