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.
Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06520, USA.
Kaya
K
Bilguvar
Michael L
ML
DiLuna
Matthew J
MJ
Bizzarro
Yasar
Y
Bayri
Karen C
KC
Schneider
Richard P
RP
Lifton
Murat
M
Gunel
Laura R
LR
Ment
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