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 dizy...

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Veröffentlicht in:	The Journal of pediatrics 2009-11, Vol.155 (5), p.743-745
Hauptverfasser:	Bilguvar, Kaya, MD, DiLuna, Michael L., MD, Bizzarro, Matthew J., MD, Bayri, Yasar, MD, Schneider, Karen C., MPH, Lifton, Richard P., MD, PhD, Gunel, Murat, MD, Ment, Laura R., MD
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences 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 General aspects Genetic Predisposition to Disease Gestational Age Humans Infant, Newborn Infant, Premature Infant, Premature, Diseases - diagnostic imaging Infant, Premature, Diseases - genetics Male Medical sciences Mutation Neurology Pediatrics Pregnancy Twins, Dizygotic Ultrasonography, Doppler, Transcranial Vascular diseases and vascular malformations of the nervous system
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Zusammenfassung:	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.
ISSN:	0022-3476 1097-6833
DOI:	10.1016/j.jpeds.2009.04.014