COL4A1 Mutation in Preterm Intraventricular Hemorrhage

Journal of Pediatrics

Volumn 155, Issue 5, 2009, Pages 743-745

  Bilguvar, Kaya ^a   DiLuna, Michael L ^a   Bizzarro, Matthew J ^a   Bayri, Yasar ^a   Schneider, Karen C ^a   Lifton, Richard P ^a   Gunel, Murat ^a   Ment, Laura R ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

INDOMETACIN;

ARTICLE; BRAIN HEMORRHAGE; CASE REPORT; DIZYGOTIC TWINS; FEMALE; GENE; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HYPERBILIRUBINEMIA; LUNG DYSPLASIA; MALE; NEWBORN; NUCLEOTIDE SEQUENCE; PATENT DUCTUS ARTERIOSUS; PERINATAL PERIOD; PRIORITY JOURNAL; RESPIRATORY DISTRESS SYNDROME; RETINOPATHY; TYPE IV PROCOLLAGEN GENE;

CEREBRAL HEMORRHAGE; COLLAGEN TYPE IV; DISEASES IN TWINS; FEMALE; FOLLOW-UP STUDIES; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENETIC PREDISPOSITION TO DISEASE; GESTATIONAL AGE; HUMANS; INFANT, NEWBORN; INFANT, PREMATURE; INFANT, PREMATURE, DISEASES; MALE; MUTATION; PREGNANCY; TWINS, DIZYGOTIC; ULTRASONOGRAPHY, DOPPLER, TRANSCRANIAL;

EID: 71749084906     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2009.04.014     Document Type: Article

References (13)

1. Neubauer A.P., Voss W., and Kattner E. Outcome of extremely low birth weight survivors at school age: the influence of perinatal parameters on neurodevelopment. Eur J Pediatr 167 (2008) 87-95
2. Sherlock R.L., Synnes A.R., Grunau R.E., Holsti L., Hubber-Richard P., Johannesen D., et al. Long term outcome after neonatal intraparenchymal echodensities with porencephaly. Arch Dis Child Fetal Neonatal Ed 93 (2008) F127-F131
3. Bhandari V., Bizzarro M.J., Shetta A., Zhong X., Page G.P., Zhang H., et al. Familial and genetic susceptibility to major neonatal morbidities in preterm twins. Pediatrics 117 (2006) 1901-1906
4. Favor J., Gloeckner C.J., Janik D., Klempt M., Neuhauser-Klaus A., Pretsch W., et al. Type IV procollagen missense mutations associated with defects of the eye, vascular stability, brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identification of the first 2 Col4a2 mutant alleles. Genetics 175 (2007) 725-736
5. Sado Y., Kagawa M., Naito I., Ueki Y., Seki T., Momota R., et al. Organization and expression of basement membrane collagen IV genes and their roles in human disorders. J Biochem (Tokyo) 123 (1998) 767-776
6. Gould D.B., Phalan C., Breedveld G.J., van Mil S.E., Smith R.S., Schimenti J.C., et al. Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science 308 (2005) 1167-1171
7. Breedveld G., de Coo I.F., Lequin M.H., Arts W.F., Heutink P., Gould D.B., et al. Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. J Med Genet 43 (2006) 490-495
8. Plaisier E., Gribouval O., Alamowitch S., Mougenot B., Prost C., Verpont M.C., et al. COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. N Engl J Med 357 (2007) 2687-2695
9. De Vries L.S., Koopman C., Groenendaal F., Schooneveld M.V., Verheijen F.W., Verbeek E., et al. COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage. Ann Neurol (2008) In press
10. Abelson J.F., Kwan K.Y., O'Roak B.J., Baek D.Y., Stillman A.A., Morgan T.M., et al. Sequence variants in SLITRK1 are associated with Tourette's syndvrome. Science 310 (2005) 317-320
11. Bateman J.F., Wilson R., Freddi S., Lamande S.R., and Savarirayan R. Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia. Hum Mutat 25 (2005) 525-534
12. Borza D.B., Bondar O., Ninomiya Y., Sado Y., Naito I., Todd P., et al. The NC1 domain of collagen IV encodes a novel network composed of the alpha 1, alpha 2, alpha 5, and alpha 6 chains in smooth muscle basement membranes. J Biol Chem 276 (2001) 28532-28540
13. Poschl E., Schlotzer-Schrehardt U., Brachvogel B., Saito K., Ninomiya Y., and Mayer U. Collagen IV is essential for basement membrane stability but dispensable for initiation of its assembly during early development. Development 131 (2004) 1619-1628