Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations

Journal of AAPOS

Volumn 15, Issue 2, 2011, Pages 198-199

  Khan, Arif O ^a,b   Al Abdi, Lama ^b   Mohamed, Jawahir Y ^b   Aldahmesh, Mohammed A ^b   Alkuraya, Fowzan S ^b,c,d  

^a KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^c KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^d ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 1B1;

ARTICLE; CASE REPORT; CHILD; FAMILIAL DISEASE; FAMILIAL JUVENILE GLAUCOMA; FEMALE; GENE MUTATION; GENETIC COUNSELING; GLAUCOMA; HUMAN; INTRAOCULAR PRESSURE; MALE; PHENOTYPE; PRIORITY JOURNAL; SAUDI ARABIA; SCHOOL CHILD; VISUAL ACUITY; VISUAL FIELD;

ANTIHYPERTENSIVE AGENTS; ARYL HYDROCARBON HYDROXYLASES; CARRIER STATE; CHILD; CONSANGUINITY; CYTOSKELETAL PROTEINS; EYE PROTEINS; FEMALE; GLAUCOMA, OPEN-ANGLE; GLYCOPROTEINS; GONIOSCOPY; HOMOZYGOTE; HUMANS; INTRAOCULAR PRESSURE; MALE; MUTATION; PEDIGREE; SIBLINGS; TIMOLOL; VISUAL ACUITY;

EID: 79956192967     PISSN: 10918531     EISSN: 15283933     Source Type: Journal    
DOI: 10.1016/j.jaapos.2011.01.156     Document Type: Article

References (10)

1. Bejjani BA, Lewis RA, Tomey KF, Anderson KL, Dueker DK, Jabak M, et al. Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. Am J Hum Genet 1998;62:325-33. (Pubitemid 28110775)
2. Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Dueker DK, Jabak M, et al. Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. Hum Mol Genet 2000;9:367-74. (Pubitemid 30098730)
3. Wiggs JL, Allingham RR, Vollrath D, Jones KH, De La Paz M, Kern J, et al. Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma. Am J Hum Genet 1998;63:1549-52. (Pubitemid 30418553)
4. Turalba AV, Chen TC. Clinical and genetic characteristics of primary juvenile-onset open-angle glaucoma (JOAG). Semin Ophthalmol 2008;23:19-25. (Pubitemid 351156987)
5. Jansson I, Stoilov I, Sarfarazi M, Schenkman JB. Effect of two mutations of human CYP1B1, G61E, and R469W, on stability and endogenous steroid substrate metabolism. Pharmacogenetics 2001;11:793-801. (Pubitemid 33151514)
6. Suri F, Yazdani S, Narooie-Nejhad M, Zargar SJ, Paylakhi SH, Zeinali S, et al. Variable expressivity and high penetrance of CYP1B1 mutations associated with primary congenital glaucoma. Ophthalmology 2009;116:2101-9.
7. Suri F, Kalhor R, Zargar SJ, Nilforooshan N, Yazdani S, Nezari H, et al. Screening of common CYP1B1 mutations in Iranian POAG patients using a microarray-based PrASE protocol. Mol Vis 2008;14:2349-56.
8. Acharya M, Mookherjee S, Bhattacharjee A, Bandyopadhyay AK, Daulat Thakur SK, Bhaduri G, et al. Primary role of CYP1B1 in Indian juvenile-onset POAG patients. Mol Vis 2006;12:399-404.
9. Fingert JH, Stone EM, Sheffield VC, Alward WLM. Myocilin glaucoma. Surv Ophthalmol 2002;47:547-61. (Pubitemid 36009477)
10. Vincent AL, Billingsley G, Buys Y, Levin AV, Priston M, Trope G, et al. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet 2002;70:448-60. (Pubitemid 34112298)