Research Paper: 

2009 de Vries

Date Published : 

02/12/2009

Summary

COL4A1 Mutation in Two Preterm Siblings with Antenatal Onset of Parenchymal Hemorrhage

Excerpt

Objective: To report the presence of intracerebral hemorrhage and porencephaly, both present at birth, in two preterm infants with a mutation in the collagen 4 A1 gene.
Methods: Two preterm infants with antenatal intracerebral hemorrhage and established porencephaly, as well as their affected mother and grandfather, underwent neurological and ophthalmological examination and magnetic resonance imaging of the brain. Mutation analysis of the COL4A1 gene was performed in the infants and in their mother.
Results: Both infants had a novel G1580R mutation in the COL4A1 gene, encoding procollagen type IV ’1. A history of mild antenatal trauma was present in the first but not in the second infant. Both preterm infants were asymptomatic at birth. The intracerebral hemorrhage and porencephaly were diagnosed with cranial ultrasound examination and were subsequently con- firmed with magnetic resonance imaging. Leukoencephalopathy was present in the mother and in her father.
Interpretation: Mutation of the COL4A1 gene appears to be a risk factor of antenatal intracerebral hemorrhage followed by porencephaly in the preterm newborn.

COL4A1 Mutation in Two Preterm Siblings with Antenatal Onset of Parenchymal Hemorrhage
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