COL4A1 mutation in preterm intraventricular hemorrhage.
Intraventricular hemorrhage is a common complication of preterm infants. Mutations in the type IV procollagen gene, COL4A1, are associated with cerebral small vessel disease with hemorrhage in adults and fetuses. We report a rare variant in COL4A1 associated with intraventricular hemorrhage in dizygotic preterm twins. These results expand the spectrum of diseases attributable to mutations in type IV procollagens.
Bilguvar
Kaya
K
Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06520, USA.
DiLuna
Michael L
ML
Bizzarro
Matthew J
MJ
Bayri
Yasar
Y
Schneider
Karen C
KC
Lifton
Richard P
RP
Gunel
Murat
M
Ment
Laura R
LR
D002543:Cerebral Hemorrhage / Q000000981:diagnostic imaging / Q000235:genetics*; D024141:Collagen Type IV / Q000235:genetics*; D004200:Diseases in Twins / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D018507:Gene Expression Regulation, Developmental; D020022:Genetic Predisposition to Disease; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007235:Infant, Premature, Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D009154:Mutation; D011247:Pregnancy; D014429:Twins, Dizygotic; D017585:Ultrasonography, Doppler, Transcranial
D024141:Collagen Type IV