1531-8249/asset/olbannerleft.gif?v=1&s=d36d5ebb3caa1b29d7f078a97c52973b0963daf2)
1531-8249/asset/olbannerright.gif?v=1&s=078041b213f6959d63575a593f880457c45116f0)
Original Article
You have free access to this content
Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly
Article first published online: 7 DEC 2012
DOI: 10.1002/ana.23736
Copyright © 2012 American Neurological Association
Additional Information
How to Cite
Yoneda, Y., Haginoya, K., Kato, M., Osaka, H., Yokochi, K., Arai, H., Kakita, A., Yamamoto, T., Otsuki, Y., Shimizu, S.-i., Wada, T., Koyama, N., Mino, Y., Kondo, N., Takahashi, S., Hirabayashi, S., Takanashi, J.-i., Okumura, A., Kumagai, T., Hirai, S., Nabetani, M., Saitoh, S., Hattori, A., Yamasaki, M., Kumakura, A., Sugo, Y., Nishiyama, K., Miyatake, S., Tsurusaki, Y., Doi, H., Miyake, N., Matsumoto, N. and Saitsu, H. (2013), Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly. Ann Neurol., 73: 48–57. doi: 10.1002/ana.23736
Publication History
- Issue published online: 1 FEB 2013
- Article first published online: 7 DEC 2012
- Accepted manuscript online: 25 AUG 2012 01:36AM EST
- Manuscript Accepted: 10 AUG 2012
- Manuscript Revised: 6 AUG 2012
- Manuscript Received: 8 JUN 2012
Funded by
- Ministry of Health, Labor, and Welfare (K.H., M.K., H.O., N.Mi., N.Ma., H.S.)
- Japan Science and Technology Agency (N.Ma.), and Strategic Research Program for Brain Sciences. Grant Number: 11105137 to N.Ma.
- Synapse and Neurocircuit Pathology
- Ministry of Education, Culture, Sports, Science, and Technology of Japan. Grant Number: 11001956 to N.Ma.
- Scientific Research from the Japan Society for the Promotion of Science
- Young Scientists from the Japan Society for the Promotion of Science
- Takeda Science Foundation
References
- 1, , . Mammalian collagen IV. Microsc Res Tech 2008; 71: 357–370.
- 2, , , et al. Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science 2005; 308: 1167–1171.
- 3, , , et al. Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. J Med Genet 2006; 43: 490–495.
- 4, , , et al. De novo and inherited mutations in COL4A2, encoding the type IV collagen alpha2 chain cause porencephaly. Am J Hum Genet 2012; 90: 86–90.
- 5, . Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease. Curr Opin Neurol 2011; 24: 63–68.
- 6, . COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review. Stroke 2010; 41: e513–e518.
- 7, , , et al. Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. Ann Neurol 2006; 59: 504–511.
- 8, , , et al. Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly. Neurology 2011; 76: 844–846.
- 9, , , et al. COL4A1 Mutations associated with a characteristic pattern of intracranial calcification. Neuropediatrics 2011; 42: 227–233.
- 10, , , et al. COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. N Engl J Med 2007; 357: 2687–2695.
- 11, , , et al. Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. Neurology 2009; 73: 1873–1882.
- 12, , , . Intracerebral hemorrhage in a young man. CMAJ 2011; 183: E61–E64.
- 13, , , et al. COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. Ann Neurol 2007; 62: 177–184.
- 14, , , et al. COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage. Ann Neurol 2012; 71: 470–477.
- 15, , , et al. COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. PLoS Genet 2011; 7: e1002062.
- 16. Porencephaly, hydranencephaly, multicystic encephalopathy. In: Developmental neuropathology. 2nd ed. Berlin, Germany: Springer-Verlag, 1989: 28–43.
- 17. Prenatal stroke. Semin Fetal Neonatal Med 2009; 14: 250–266.
- 18, , , et al. A developmental and genetic classification for malformations of cortical development: update 2012. Brain 2012; 135: 1348–1369.
- 19, . Schizencephalies; a study of the congenital clefts in the cerebral mantle; clefts with fused lips. J Neuropathol Exp Neurol 1946; 5: 116–130.
- 20, . Schizencephaly: correlation of clinical findings with MR characteristics. AJNR Am J Neuroradiol 1992; 13: 85–94.
- 21, , , et al. De novo mutations in the gene encoding STXBP1 (MUNC18–1) cause early infantile epileptic encephalopathy. Nat Genet 2008; 40: 782–788.
- 22, , , et al. STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. Epilepsia 2010; 51: 2397–2405.
- 23, , , et al. Prenatal genetic confirmation of a COL4A1 mutation presenting with sonographic fetal intracranial hemorrhage. Ultrasound Obstet Gynecol 2012; 39: 726–727.
- 24, , , et al. COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage. Ann Neurol 2009; 65: 12–18.
- 25, . The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper. Annu Rev Biophys Biophys Chem 1991; 20: 137–152.
- 26, . A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. Trends Biochem Sci 1998; 23: 198–199.
- 27, , , et al. Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N Engl J Med 2006; 354: 1370–1377.
- 28, , , et al. Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the 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 two Col4a2 mutant alleles. Genetics 2007; 175: 725–736.
- 29, , , et al. Col4a1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell volume. Hum Mol Genet 2010; 19: 1119–1128.
- 30, , , et al. Growth factors and cytokines upregulate gelatinase expression in bone marrow CD34(+) cells and their transmigration through reconstituted basement membrane. Blood 1999; 93: 3379–3390