Abstract
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.
Publication types
-
Case Reports
-
Research Support, N.I.H., Extramural
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Cerebral Hemorrhage / diagnostic imaging
-
Cerebral Hemorrhage / genetics*
-
Collagen Type IV / genetics*
-
Diseases in Twins / diagnostic imaging
-
Diseases in Twins / genetics*
-
Female
-
Follow-Up Studies
-
Gene Expression Regulation, Developmental
-
Genetic Predisposition to Disease*
-
Gestational Age
-
Humans
-
Infant, Newborn
-
Infant, Premature
-
Infant, Premature, Diseases / diagnostic imaging
-
Infant, Premature, Diseases / genetics*
-
Male
-
Mutation*
-
Pregnancy
-
Twins, Dizygotic
-
Ultrasonography, Doppler, Transcranial