COL4A1 Mutation in Preterm Intraventricular Hemorrhage - 07/08/11
Doi : 10.1016/j.jpeds.2009.04.014
Kaya Bilguvar, MD a, b, 
, Michael L. DiLuna, MD a, b, , Matthew J. Bizzarro, MD c, Yasar Bayri, MD a, b, Karen C. Schneider, MPH c, Richard P. Lifton, MD, PhD d, e, Murat Gunel, MD a, b, f, , Laura R. Ment, MD c, g, ⁎ 
, Michael L. DiLuna, MD a, b, , Matthew J. Bizzarro, MD c, Yasar Bayri, MD a, b, Karen C. Schneider, MPH c, Richard P. Lifton, MD, PhD d, e, Murat Gunel, MD a, b, f, , Laura R. Ment, MD c, g, ⁎ a Department of Neurosurgery, Yale University School of Medicine, New Haven, CT
b Program on Neurogenetics, Yale University School of Medicine, New Haven, CT
c Department of Pediatrics, Yale University School of Medicine, New Haven, CT
d Department of Genetics, Yale University School of Medicine, New Haven, CT
e Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT
f Department of Neurobiology, Yale University School of Medicine, New Haven, CT
g Department of Neurology, Yale University School of Medicine, New Haven, CT
Reprint requests: Dr Laura R. Ment, Department of Pediatrics, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06520.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.
Le texte complet de cet article est disponible en PDF.Mots-clés : IVH, VLBW
Plan
| Supported by grants NS053l865, NS 27116, and U24 NS051869 from the National Institutes of Health and the Yale Program on Neurogenetics. R.P.L. is an investigator of the Howard Hughes Medical Institute. The authors declare no conflicts of interest. |
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Vol 155 - N° 5
P. 743-745 - novembre 2009 Retour au numéro
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