Ophthalmological features associated with COL4A1 mutations

Archives of Ophthalmology

Volumn 128, Issue 4, 2010, Pages 483-489

  Coupry, Isabelle ^a   Sibon, Igor ^b   Mortemousque, Bruno ^b   Rouanet, François ^b   Mine, Manuele ^c,d   Goizet, Cyril ^a,b  

^a UNIVERSITÉ DE BORDEAUX   (France)

^b HÔPITAL PELLEGRIN   (France)

^c HÔPITAL LARIBOISIÈRE   (France)

^d INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ANTIHYPERTENSIVE AGENT; ARGININE; ASPARTIC ACID; COLLAGEN TYPE 4; COLLAGEN TYPE 4 ALPHA1 CHAIN; GLYCINE; LATANOPROST; UNCLASSIFIED DRUG;

ADULT; AMBLYOPIA; APHAKIA; ARTICLE; BRAIN HEMORRHAGE; BRAIN INFARCTION; CATARACT EXTRACTION; CHILD; CLINICAL ARTICLE; CONGENITAL CATARACT; CONTACT LENS; CORNEA DISEASE; CORNEA NEOVASCULARIZATION; CORNEA OPACITY; CORNEA TRANSPLANTATION; DYSARTHRIA; EXON; EYE DISEASE; EYE EXAMINATION; EYE SYNECHIA; FACIAL NERVE PARALYSIS; FAMILY; FEMALE; FLUORESCENCE ANGIOGRAPHY; GENE SEQUENCE; GENETIC ASSOCIATION; GLAUCOMA; GLAUCOMA DRAINAGE IMPLANT; HEMIPARESIS; HUMAN; HYPERMETROPIA; HYPOPLASIA; INTRAOCULAR HYPERTENSION; IRIS DISEASE; IRIS HYPOPLASIA; LEUKOENCEPHALOPATHY; MALE; MICROCORNEA; MIGRAINE; MIGRAINE WITHOUT AURA; MISSENSE MUTATION; MYOPIA; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE; OPTIC NERVE DISEASE; PRIORITY JOURNAL; RETINA DETACHMENT; RETINA MACULA HEMORRHAGE; RIEGER SYNDROME; SCHOOL CHILD; STRABISMUS; WHITE MATTER;

EID: 77950789958     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archophthalmol.2010.42     Document Type: Article

References (35)

1. Gould DB, Phalan FC, Breedveld GJ, et al. Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science. 2005;308(5725):1167- 1171.
2. Gould DB, Phalan FC, van Mil SE, et al. Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med. 2006;354(14):1489-1496.
3. van der Knaap MS, Smit LM, Barkhof F, et al. Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. Ann Neurol. 2006;59(3):504-511. (Pubitemid 43358071)
4. Breedveld G, de Coo IF, Lequin MH, et al. Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. J Med Genet. 2006; 43(6):490-495. (Pubitemid 43927322)
5. Vahedi K, Massin P, Guichard JP, et al. Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy. Neurology. 2003;60(1): 57-63. (Pubitemid 36070644)
6. Sibon I, Coupry I, Menegon P, et al. COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. Ann Neurol. 2007;62(2):177-184. (Pubitemid 47546503)
7. Plaisier E, Gribouval O, Alamowitch S, et al. COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. N Engl J Med. 2007; 357(26):2687-2695.
8. Gould DB, Marchant JK, Savinova OV, Smith RS, John SW. Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis. Hum Mol Genet. 2007;16(7):798-807.
9. Lines MA, Kozlowski K, Walter MA. Molecular genetics of Axenfeld-Rieger malformations. Hum Mol Genet. 2002;11(10):1177-1184.
10. Alward WL. Axenfeld-Rieger syndrome in the age of molecular genetics. Am J Ophthalmol. 2000;130(1):107-115.
11. Bekir NA, Gungor K. Atrial septal defect with interatrial aneurysm and Axenfeld-Rieger syndrome. Acta Ophthalmol Scand. 2000;78(1):101-103. (Pubitemid 30095323)
12. Grosso S, Farnetani MA, Berardi R, et al. Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome? Am J Med Genet. 2002;111(2):182-186. (Pubitemid 34809501)
13. Cunningham ET Jr, Eliott D, Miller NR, Maumenee IH, Green WR. Familial Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss: a possible new genetic syndrome. Arch Ophthalmol. 1998;116(1):78-82. (Pubitemid 28098898)
14. McCann E, Kaye SB, Newman W, Norbury G, Black GC, Ellis IH. Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation. Am J Med Genet A. 2005;138A(3): 278-281. (Pubitemid 41384247)
15. Glaser T, Walton DS, Maas RL. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nat Genet. 1992;2(3):232-239.
16. Semina EV, Reiter R, Leysens NJ, et al. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet. 1996;14(4):392-399. (Pubitemid 26414582)
17. Nishimura DY, Swiderski RE, Alward WL, et al. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet. 1998;19(2):140-147.
18. Phillips JC, del Bono EA, Haines JL, et al. A second locus for Rieger syndrome maps to chromosome 13q14. Am J Hum Genet. 1996;59(3):613-619.
19. Gould DB, John SW. Anterior segment dysgenesis and the developmental glaucomas are complex traits. Hum Mol Genet. 2002;11(10):1185-1193.
20. Van Agtmael T, Schlotzer-Schrehardt U, McKie L, et al. Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy. Hum Mol Genet. 2005;14(21):3161-3168. (Pubitemid 41631291)
21. Favor J, Gloeckner CJ, Janik D, 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(2):725-736. (Pubitemid 46798271)
22. Cvekl A, Tamm ER. Anterior eye development and ocular mesenchyme: new insights from mouse models and human diseases. Bioessays. 2004;26(4):374-386. (Pubitemid 38461618)
23. Doward W, Perveen R, Lloyd IC, Ridgway AE, Wilson L, Black GC. A mutation in the RIEG1 gene associated with Peters' anomaly. J Med Genet. 1999;36(2): 152-155. (Pubitemid 29101394)
24. Nishimura DY, Searby CC, Alward WL, et al. A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. Am J Hum Genet. 2001;68(2):364-372.
25. Ashery-Padan R, Gruss P. Pax6 lights-up the way for eye development. Curr Opin Cell Biol. 2001;13(6):706-714. (Pubitemid 33042731)
26. Jordan T, Hanson I, Zaletayev D, et al. The human PAX6 gene is mutated in two patients with aniridia. Nat Genet. 1992;1(5):328-332.
27. Prosser J, van Heyningen V. PAX6 mutations reviewed. Hum Mutat. 1998;11(2): 93-108.
28. Zenker M, Aigner T, Wendler O, et al. Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet. 2004;13(21):2625-2632. (Pubitemid 39485411)
29. Ylikärppä R, Eklund L, Sormunen R, et al. Lack of type XVIII collagen results in anterior ocular defects. FASEB J. 2003;17(15):2257-2259. (Pubitemid 39561458)
30. Kalluri R. Basement membranes: structure, assembly and role in tumour angiogenesis. Nat Rev Cancer. 2003;3(6):422-433. (Pubitemid 37328846)
31. Pöschl E, Schlotzer-Schrehardt U, Brachvogel B, Saito K, Ninomiya Y, Mayer U. Collagen IV is essential for basement membrane stability but dispensable for initiation of its assembly during early development. Development. 2004;131(7): 1619-1628. (Pubitemid 38559288)
32. Kelley PB, Sado Y, Duncan MK. Collagen IV in the developing lens capsule. Matrix Biol. 2002;21(5):415-423.
33. Genis-Galvez JM. Role of the lens in the morphogenesis of the iris and cornea. Nature. 1966;210(5032):209-210.
34. Hjalt TA, Amendt BA, Murray JC. PITX2 regulates procollagen lysyl hydroxylase (PLOD) gene expression: implications for the pathology of Rieger syndrome. J Cell Biol. 2001;152(3):545-552.
35. Heikkinen J, Toppinen T, Yeowell H, et al. Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome. Am J Hum Genet. 1997;60(1):48-56. (Pubitemid 26427777)