Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

American Journal of Human Genetics

Volumn 84, Issue 5, 2009, Pages 664-671

  Ali, Manir ^a   McKibbin, Martin ^a,b   Booth, Adam ^a,c   Parry, David A ^a   Jain, Payal ^a   Riazuddin, S Amer ^d   Hejtmancik, J Fielding ^e   Khan, Shaheen N ^d   Firasat, Sabika ^d   Shires, Mike ^a   Gilmour, David F ^a,b   Towns, Katherine ^a   Murphy, Anna Louise ^a   Azmanov, Dimitar ^f   Tournev, Ivailo ^g   Cherninkova, Sylvia ^g   Jafri, Hussain ^h   Raashid, Yasmin ⁱ   Toomes, Carmel ^a   Craig, Jamie ^j   Mackey, David A ^f   Kalaydjieva, Luba ^f   Riazuddin, Sheikh ^d   Inglehearn, Chris F ^a   more..

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^c PENINSULA MEDICAL SCHOOL   (United Kingdom)

^d UNIVERSITY OF THE PUNJAB   (Pakistan)

^e NATIONAL EYE INSTITUTE   (United States)

^f UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^g MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^h Gene Tech Lab 146/1   (Pakistan)

ⁱ KING EDWARD MEDICAL UNIVERSITY   (Pakistan)

^j FLINDERS MEDICAL CENTRE   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN;

ANIMAL EXPERIMENT; ANTERIOR EYE CHAMBER; ANTERIOR EYE SEGMENT; ARTICLE; CELL ADHESION; CHILD; CHROMOSOME 14Q; CILIARY BODY; CILIARY MUSCLE; CLINICAL ARTICLE; CONGENITAL GLAUCOMA; CONSANGUINEOUS MARRIAGE; EMBRYO; ETHNICITY; FIBER; GENE; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GIPSY; HUMAN; LATENT TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN 2 GENE; MOUSE; NONHUMAN; PAKISTAN; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN STRUCTURE; SEQUENCE HOMOLOGY;

CHROMOSOME MAPPING; CILIARY BODY; CONSANGUINITY; GLAUCOMA; HUMANS; LATENT TGF-BETA BINDING PROTEINS; MUTATION; PEDIGREE;

EID: 65149084930     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.03.017     Document Type: Article

References (41)

1. Kupfer C., and Kaiser-Kupfer M.I. Observations on the development of anterior chamber angle with reference to the pathogenesis of congenital glaucomas. Am. J. Ophthalmol. 88 (1979) 424-426
2. Anderson D.R. The development of the trabecular meshwork and its abnormality in primary infantile glaucoma. Trans. Am. Ophthalmol. Soc. 79 (1981) 458-485
3. Ho C.L., and Walton D.S. Primary congenital glaucoma: 2004 update. J. Pediatr. Ophthalmol. Strabismus 41 (2004) 271-288
4. Francois J. Congenital glaucoma and its inheritance. Ophthalmologica 181 (1980) 61-73
5. Dandona L., Williams J.D., Williams B.C., and Rao G.N. Population-based assessment of childhood blindness in Southern India. Arch. Ophthalmol. 116 (1998) 545-546
6. Jaffar M.S. Care of the infantile glaucoma patient. In: Reineck R.D. (Ed). Ophthalmology Annual (1988), Raven Press, New York 15
7. Gencik A., Gencikova A., and Ferak V. Population genetical aspects of primary congenital glaucoma. I. Incidence, prevalence, gene frequency, and age of onset. Hum. Genet. 61 (1982) 193-197
8. Sarfarazi M., Akarsu A.N., Hossain A., Turacli M.E., Aktan S.G., Barsoum-Homsy M., Chevrette L., and Sayli B.S. Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics 30 (1995) 171-177
9. Akarsu A.N., Turacli M.E., Aktan S.G., Barsoum-Homsy M., Chevrette L., Sayli B.S., and Sarfarazi M. A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region. Hum. Mol. Genet. 5 (1996) 1199-1203
10. Firasat S., Riazuddin S.A., Hejtmancik J.F., and Riazuddin S. Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families. Mol. Vis. 14 (2008) 1659-1665
11. Stoilov I., Akarsu A.N., and Sarfarazi M. Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Bupthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum. Mol. Genet. 6 (1997) 641-647
12. Stoilov I., Akarsu A.N., Alozie I., Child A., Barsoum-Hmsy M., Turacli M.E., Or M., Lewis R.A., Ozdemir N., Brice G., et al. Sequence analysis and homology modelling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. Am. J. Hum. Genet. 62 (1998) 573-584
13. Schlotzer-Schrehardt U., Zenkel M., Kuchle M., Sakai L.Y., and Naumann G.O.H. Role of transforming growth factor-β1 and its latent form binding protein in pseudoexfoliation syndrome. Exp. Eye Res. 73 (2001) 765-780
14. Morar B., Gresham D., Angelicheva D., Tournev I., Gooding R., Guergueltcheva V., Schmidt C., Abicht A., Lochmuller H., Tordai A., et al. Mutation history of the Roma/Gypsies. Am. J. Hum. Genet. 75 (2004) 596-609
15. Sivadorai P., Cherninkova S., Bouwer S., Kamenarova K., Angelicheva D., Seeman P., Hollingsworth K., Mihaylova V., Oscar A., Dimitrova G., et al. Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies. Clin. Genet. 74 (2008) 82-87
16. Hancock I. The emergence of Romani as a koine outside of India. In: Acton T. (Ed). Scholarship and Gypsy Struggle: Commitment in Romani Studies (2000), University of Hertfordshire Press, Hatfield, UK 1-13
17. Downing A.K., Knott V., Werner J.M., Cardy C.M., Campbell I.D., and Handford P.A. Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders. Cell 85 (1996) 597-605
18. Kanzaki T., Olofsson A., Moren A., Wernstedt C., Hellman U., Miyazono K., Claesson-Welsh L., and Heldin C.H. TGF-beta 1 binding protein: a component of the large latent complex of TGF-beta 1 with multiple repeat sequences. Cell 61 (1990) 1051-1061
19. Saharinen J., and Keski-Oja J. Specific sequence motif of 8-cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta. Mol. Biol. Cell 11 (2000) 2691-2704
20. Vehvilainen P., Hyytiainen M., and Keski-Oja J. Latent transforming growth factor-beta-binding protein 2 is an adhesion protein for melanoma cells. J. Biol. Chem. 278 (2003) 24705-24713
21. Hirai M., Horiguchi M., Ohbayashi T., Kita T., Chien K.R., and Nakamura T. Latent TGF-β-binding protein 2 binds to DANCE/fibulin-5 and regulates elastic fiber assembly. EMBO J. 26 (2007) 3283-3295
22. Gibson M.A., Hatzinikolas G., Davis E.C., Baker E., Sutherland G.R., and Mecham R.P. Bovine latent transforming growth factor β1-binding protein 2: Molecular cloning, identification of tissue isoforms, and immunolocalization to elastin-associated microfibrils. Mol. Cell. Biol. 15 (1995) 6932-6942
23. Hirani R., Hanssen E., and Gibson M.A. LTBP-2 specifically interacts with the amino-terminal region of fibrillin-1 and competes with LTBP-1 for binding to this microfibrillar protein. Matrix Biol. 26 (2007) 213-223
24. Shipley J.M., Mecham R.P., Maus E., Bonadio J., Rosenbloom J., McCarthy R.T., Baumann M.L., Frankfater C., Segade F., and Shapiro S.D. Developmental expression of latent transforming growth factor β binding protein 2 and its requirement early in mouse development. Mol. Cell. Biol. 20 (2000) 4879-4887
25. Fang J., Li X., Smiley E., Francke U., Mecham R.P., and Bonadio J. Mouse latent TGF-β binding protein-2: Molecular cloning and developmental expression. Biochim. Biophys. Acta 1354 (1997) 219-230
26. Dietz H.C., Cutting G.R., Pyeritz R.E., Maslen C.L., Sakai L.Y., Corson G.M., Puffenberger E.G., Hamosh A., Nanthakumar E.J., Curristin S.M., et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352 (1991) 337-339
27. Izquierdo N.J., Traboulsi E.I., Enger C., and Maumenee I.H. Glaucoma in the Marfan syndrome. Trans. Am. Ophthalmol. Soc. 90 (1992) 111-117
28. Challa P., Hauser M.A., Luna C.C., Freedman S.F., Pericak-Vance M., Yang J., McDonald M.T., and Allingham R.R. Juvenile bilateral lens dislocation and glaucoma associated with a novel mutation in the fibrillin 1 gene. Mol. Vis. 12 (2006) 1009-1015
29. Cheung C.-L., Sham P.C., Chan V., Paterson A.D., Luk K.D.K., and Kung A.W.C. Identification of LTBP2 on chromosome 14q as a novel candidate gene for bone mineral density variation and fracture risk association. J. Clin. Endocrinol. Metab. 93 (2008) 4448-4455
30. Tandon P.N., and Autar R. Flow of aqueous humor in the canal of Schlemm. Math. Biosci. 93 (1989) 53-78
31. Epstein D.L. Practical aqueos humor dynamics. In: Epstein D.L., Allingham R.R., and Schuman J.S. (Eds). Chandler and Grant's Glaucoma. 4th edn. (1997), Williams and Wilkins, Baltimore, MD 22
32. Grierson I., Lee W.R., and Abraham S. Effects of pilocarpine on the morphology of the human outflow apparatus. Br. J. Ophthalmol. 62 (1978) 302-313
33. Vincent A.L., Billingsley G., Buys Y., Levin A.V., Priston M., Trope G., Williams-Lyn D., and Heon E. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am. J. Hum. Genet. 70 (2002) 448-460
34. Melki R., Colomb E., Lefort N., Brezin A.P., and Garchon H.-J. CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. J. Med. Genet. 41 (2004) 647-651
35. Buys Y., Goldberg I., Lambrou G.N., and Ritch R. World Glaucoma Day, 6 March 2008: Tackling the glaucoma pandemic. Acta Ophthalmol. (Copenh.) 86 (2008) 124-125
36. Hewitt A.W., Craig J.E., and Mackey D.A. Complex genetics of complex traits: The case of primary open-angle glaucoma. Clin. Exp. Ophthalmol. 34 (2006) 472-484
37. Wiggs J.L., Allingham R.R., Hossain A., Kern J., Auguste J., DelBono E.A., Broomer B., Lennon G.F., Hauser M., Pericak-Vance M., and Haines J.L. Genome-wide scan for adult onset primary open-angle glaucoma. Hum. Mol. Genet. 9 (2000) 1109-1117
38. Nemesure B., Jiao X., He Q., Leske M.C., Wu S.Y., Hennis A., Mendell N., Redman J., Garchon H.J., Agarwala R., et al. A genome-wide scan for primary open-angle glaucoma (POAG): The Barbados family study of open-angle glaucoma. Hum. Genet. 112 (2003) 600-609
39. Rotimi C.N., Chen G., Adeyemo A.A., Jones L.S., Agyenim-Boateng K., Eghan Jr. B.A., Zhou J., Doumatey A., Lashley K., Huang H., et al. Genomewide scan and fine mapping of quantitative trait loci for intraocular pressure on 5q and 14q in West Africans. Invest. Ophthalmol. Vis. Sci. 47 (2006) 3262-3267
40. Pfeiffer R.A., Büttinghaus K., and Struck H. Partial trisomy 14 following a balanced reciprocal translocation t(14q-;21q+). Humangenetik 20 (1973) 187-189
41. Kousseff B.G. Fahr syndrome and congenital glaucoma: Report of a family and a review. Acta Paediatr. Belg. 33 (1980) 57-61