Complex genetics of glaucoma: defects in CYP1B1, and not MYOC, cause pathogenesis in an early-onset POAG patient with double variants at both loci

Journal of Genetics

Volumn 87, Issue 3, 2008, Pages 265-269

  Acharya, Moulinath ^a,d   Mukhopadhyay, Arijit ^b   Bhattacharjee, Ashima ^a,e   Thakur, Sanjay K D ^c   Bandyopadhyay, Arun K ^c   Ray, Kunal ^a  

^a INDIAN INSTITUTE OF CHEMICAL BIOLOGY   (India)

^b CSIR INSTITUTE OF GENOMICS AND INTEGRATIVE BIOLOGY   (India)

^c MEDICAL COLLEGE AND HOSPITAL   (India)

^d UNIVERSITY OF ALBERTA   (Canada)

^e OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

CYP1B1; Glaucoma; Human genetics; MYOC; Primary congenital glaucoma (PCG); Primary open angle glaucoma (POAG)

Indexed keywords

EID: 58549120999     PISSN: 00221333     EISSN: 00221333     Source Type: Journal    
DOI: 10.1007/s12041-008-0041-3     Document Type: Article

References (23)

1. Acharya M., Mookherjee S., Bhattacharjee A., Bandyopadhyay A. K., Thakur S. K., Bhaduri G. et al. 2006 Primary role of CYP1B1 in Indian juvenile-onset POAG patients. Mol. Vis. 12, 399-404.
2. Acharya M., Mookherjee S., Bhattacharjee A., Thakur S. K., Bandyopadhyay A. K., Sen A. et al. 2007 Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change. BMC. Mol. Biol. 8, 21 (http://www.bimedcentral.com/1471-219a/8/21).
3. Chakrabarti S., Kaur K., Kaur I., Mandal A. K., Parikh R. S., Thomas R. and Majumder P. P. 2006 Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds. Invest. Ophthalmol. Vis. Sci. 47, 43-47.
4. Chavarria-Soley G., Michels-Rautenstrauss K., Pasutto F., Flikier D., Flikier P., Cirak S. et al. 2006 Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations. Mol. Vis. 12, 523-531.
5. Colomb E., Kaplan J. and Garchon H. J. 2003 Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France. Hum. Mutat. 22, 496 (http://www.interscience.wiley.com/humanmutation/pdf/mutation/668.pdf).
6. Hewitt A.W., Bennett S. L., Dimasi D. P., Craig J. E. and Mackey D. A. 2006 A myocilin Gln368STOP homozygote does not exhibit a more severe glaucoma phenotype than heterozygous cases. Am. J. Ophthalmol. 141, 402-403.
7. Indian genome variation consortium 2008 Genetic landscape of the people of India: a canvas for disease gene exploration. J. Genet. 87, 3-20.
8. Kaur K., Reddy A. B., Mukhopadhyay A., Mandal A. K., Hasnain S. E., Ray K. et al. 2005 Myocilin gene implicated in primary congenital glaucoma. Clin. Genet. 67, 335-340.
9. Lopez-Garrido M. P., Sanchez-Sanchez F., Lopez-Martinez F., Aroca-Aguilar J. D., Blanco-Marchite C., Coca-Prados M. and Escribano J. 2006 Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. Mol. Vis. 12, 748-755.
10. Melki R., Colomb E., Lefort N., Brezin A. P. and Garchon H. J. 2004 CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. J. Med. Genet. 41, 647-651.
11. Michels-Rautenstrauss K. G., Mardin C. Y., Zenker M., Jordan N., Gusek-Schneider G. C. and Rautenstrauss B. W. 2001 Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene. J. Glaucoma. 10, 354-357.
12. Monemi S., Spaeth G., DaSilva A., Popinchalk S., Ilitchev E., Liebmann J. et al. 2005 Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Hum. Mol. Genet. 14, 725-733.
13. Morissette J., Clepet C., Moisan S., Dubois S., Winstall E., Vermeeren D. et al. 1998 Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma. Nat. Genet. 19, 319-321.
14. Mukhopadhyay A., Acharya M., Mukherjee S., Ray J., Choudhury S., Khan M. and Ray K. 2002 Mutations in MYOC gene of Indian primary open angle glaucoma patients. Mol. Vis. 8, 442-448.
15. Mukhopadhyay A., Komatireddy S., Acharya M., Bhattacharjee A., Mandal A. K., Thakur S. K. et al. 2005 Evaluation of optineurin as a candidate gene in Indian patients with primary open angle glaucoma. Mol. Vis. 11, 792-797.
16. Panicker S. G., Reddy A. B., Mandal A. K., Ahmed N., Nagarajaram H. A., Hasnain S. E. and Balasubramanian D. 2002 Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees. Invest. Ophthalmol. Vis. Sci. 43, 1358-1366.
17. Quigley H. A. and Broman A. T. 2006 The number of people with glaucoma worldwide in 2010 and 2020. Br. J. Ophthalmol. 90, 262-267.
18. Rezaie T., Child A., Hitchings R., Brice G., Miller L., Coca-Prados M. et al. 2002 Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 295, 1077-1079.
19. Sambrrok J., Fritsch E. F. and Maniatis T. 1989 Molecular cloning a laboratory manual 2nd edition. Cold Spring Harbor Press, Cold Springer Harbor, New York.
20. Stoilov I., Akarsu A. N. and Sarfarazi M. 1997 Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum. Mol. Genet. 6, 641-647.
21. Stone E. M., Fingert J. H., Alward W. L., Nguyen T. D., Polansky J. R., Sunden S. L. et al. 1997 Identification of a gene that causes primary open angle glaucoma. Science 275, 668-670.
22. Vasiliou V. and Gonzalez F. J. 2008 Role of CYP1B1 in glaucoma. Annu. Rev. Pharmacol. Toxicol. 48, 333-358.
23. Vincent A. L., Billingsley G., Buys Y., Levin A. V., Priston M., Trope G., Williams-Lyn D. and Heon E. 2002 Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am. J. Hum. Genet. 70, 448-460.