COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.
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 alpha1. 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 confirmed with magnetic resonance imaging. Leukoencephalopathy was present in the mother and in her father.


CONCLUSIONS
Mutation of the COL4A1 gene appears to be a risk factor of antenatal intracerebral hemorrhage followed by porencephaly in the preterm newborn.
de Vries
Linda S
LS
Department of Neonatology, Wilhelmina Children's Hospital, UMC Utrecht, the Netherlands. l.s.devries@umcutrecht.nl
Koopman
Corine
C
Groenendaal
Floris
F
Van Schooneveld
Mary
M
Verheijen
Frans W
FW
Verbeek
Elly
E
Witkamp
Theo D
TD
van der Worp
H Bart
HB
Mancini
Grazia
G
D001120:Arginine / Q000235:genetics; D002543:Cerebral Hemorrhage / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D024141:Collagen Type IV / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005998:Glycine / Q000235:genetics; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D047928:Premature Birth / Q000235:genetics / Q000503:physiopathology*; D035781:Siblings
D024141:Collagen Type IV; D001120:Arginine; D005998:Glycine