LTBP2 gene analysis in the GLC3C-linked family and 94 CYP1B1-negative cases with primary congenital glaucoma

REFERENCES

• Francois J. Congenital glaucoma and its inheritance. Ophthalmologica 1980;181:61–73.
   PubMed Web of Science ®Google Scholar
• Gencik A. Epidemiology and genetics of primary congenital glaucoma in Slovakia. Description of a form of primary congenital glaucoma in gypsies with autosomal-recessive inheritance and complete penetrance. Dev Ophthalmol 1989;16:76–115.
   PubMedGoogle Scholar
• Papadopoulos M, Cable N, Rahi J, Khaw PT. The British Infantile and Childhood Glaucoma (BIG) Eye Study. Invest Ophthalmol Vis Sci 2007;48:4100–4106.
   PubMed Web of Science ®Google Scholar
• Akarsu AN, Turacli ME, Aktan SG, et al. A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region. Hum Mol Genet 1996;5:1199–1203.
   PubMed Web of Science ®Google Scholar
• Bejjani BA, Stockton DW, Lewis RA, 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;9:367–374.
   PubMed Web of Science ®Google Scholar
• Dickens CJ, Hoskins Jr. HD. Epidemiology and pathophysiology of congenital glaucoma. In The Glaucomas, 2nd ed. St Louis: Mosby, 1996:729–738.
   Google Scholar
• Hafez M, Moustafa EE, Mokpel TH, Settein S, el-Serogy H. Evidence of HLA-linked susceptibility gene(s) in primary congenital glaucoma. Dis Markers 1990;8:191–197.
   PubMed Web of Science ®Google Scholar
• Sarfarazi M, Akarsu AN, Hossain A, et al. Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics 1995;30:171–177.
   PubMed Web of Science ®Google Scholar
• Turacli ME, Aktan SG, Sayli BS, Akarsu N. Therapeutical and genetical aspects of congenital glaucomas. Int Ophthalmol 1992;16:359–362.
   PubMed Web of Science ®Google Scholar
• Jaffar M. Care of the infantile glaucoma patient, Ophthalmology Annual. New York: Raven Press, 1988:15–37.
   Google Scholar
• Lichter PR. Genetic clues to glaucoma’s secrets. The L Edward Jackson Memorial Lecture. Part 2. Am J Ophthalmol 1994;117:706–727.
   PubMed Web of Science ®Google Scholar
• Lichter PR. Visual field validity and the search for glaucoma’s Holy Grail. Ophthalmology 1994;101:1479–1480.
   PubMed Web of Science ®Google Scholar
• Beck AD. Diagnosis and management of pediatric glaucoma. Ophthalmol Clin North Am 2001;14:501–512.
   PubMedGoogle Scholar
• Hoskins HD, Jr., Shaffer RN, Hetherington J. Anatomical classification of the developmental glaucomas. Arch Ophthalmol 1984;102:1331–1336.
   PubMedGoogle Scholar
• Kanski J. Clinical ophthalmology, 4th ed. Boston: Butterworth-Heinemann, 1999:235–238.
   Google Scholar
• Shaffer R, Weiss D. Congenital and pediatric glaucomas. St. Louis (MO): Mosby, 1970.
   Google Scholar
• Haddad MA, Sampaio MW, Oltrogge EW, Kara-Jose N, Betinjane AJ. Visual impairment secondary to congenital glaucoma in children: Visual responses, optical correction and use of low vision AIDS. Clinics (Sao Paulo) 2009;64:725–730.
   PubMed Web of Science ®Google Scholar
• Panicker SG, Reddy AB, Mandal AK, et al. Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees. Invest Ophthalmol Vis Sci 2002;43:1358–1366.
   PubMed Web of Science ®Google Scholar
• Sarfarazi M, Stoilov I. The third genetic locus (GLC3C) for Primary Congenital Glaucoma (PCG) maps to chromosome 14q24.3. Am J Hum Genet 2002 (Suppl.);71.
   Google Scholar
• Stoilov I, Sarfarazi M. The third genetic locus (GLC3C) for primary congenital glaucoma (PCG) maps to chromosome 14q24.3. Invest Ophthalmol Vis Sci (Abst. # 3015) 2002;43.
   Google Scholar
• Stoilov I, Akarsu AN, Sarfarazi M. 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 1997;6:641–647.
   PubMed Web of Science ®Google Scholar
• Sharafieh R, Child AH, Sarfarazi M. Molecular genetics of primary congenital glaucoma. In: Traboulsi EI, ed. Genetic Diseases of the Eye, 2nd ed., Ch. 17. Oxford: Oxford University Press, 2012.
   Google Scholar
• Sarfarazi M, Stoilov I, Schenkman JB. Genetics and biochemistry of primary congenital glaucoma. Ophthalmol Clin North Am 2003;16:543–54, vi.
   PubMedGoogle Scholar
• Chen Y, Jiang D, Yu L, et al. CYP1B1 and MYOC mutations in 116 Chinese patients with primary congenital glaucoma. Arch Ophthalmol 2008;126:1443–1447.
   PubMed Web of Science ®Google Scholar
• Kakiuchi T, Isashiki Y, Nakao K, Sonoda S, Kimura K, Ohba N. A novel truncating mutation of cytochrome P4501B1 (CYP1B1) gene in primary infantile glaucoma. Am J Ophthalmol 1999;128:370–372.
   PubMed Web of Science ®Google Scholar
• Ferak V, Gencik A, Gencikova A. Population genetic aspects of primary congenital glaucoma. II. Fitness, parental consanguinity, founder effect. Hum Genet 1982;61:198–200.
   PubMed Web of Science ®Google Scholar
• Plasilova M, Stoilov I, Sarfarazi M, Kadasi L, Ferakova E, Ferak V. Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. J Med Genet 1999;36:290–294.
   PubMed Web of Science ®Google Scholar
• Ali M, McKibbin M, Booth A, et al. Null mutations in LTBP2 cause primary congenital glaucoma. Am J Hum Genet 2009;84:664–671.
   PubMed Web of Science ®Google Scholar
• Narooie-Nejad M, Paylakhi SH, Shojaee S, et al. Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma. Hum Mol Genet 2009;18:3969–3977.
   PubMed Web of Science ®Google Scholar
• Desir J, Sznajer Y, Depasse F, et al. LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma. Eur J Hum Genet 2010;18:761–767.
   PubMed Web of Science ®Google Scholar
• Khan AO. Genetics of primary glaucoma. Curr Opin Ophthalmol 2011;22:347–355.
   PubMed Web of Science ®Google Scholar
• Khan AO, Aldahmesh MA, Alkuraya FS. Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma – a distinct phenotype caused by recessive LTBP2 mutations. Mol Vis 2011;17:2570–2579.
   PubMed Web of Science ®Google Scholar
• Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 1977;74:5463–5467.
   PubMed Web of Science ®Google Scholar
• Yanovitch TL, Freedman SF, White T, Tran-Viet K-N, Metlapally R, Call W, Burner E, Young TL. CYP1B1, MYOC, and LTBP2 sequence variations in a cohort of primary congenital glaucoma (PCG) patients from the US. Invest Ophthalmol Vis Sci (Abst. # 2179) 2010; 51.
   Google Scholar
• Firasat S, Riazuddin SA, Hejtmancik JF, Riazuddin S. Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families. Mol Vis 2008;14:1659–1665.
   PubMed Web of Science ®Google Scholar
• Booth AP, Murphy A-L, Williams G, et al. Confirmation of a locus for primary congenital glaucoma (PCG) on chromosome 14q24 in a Pakistani pedigree. Invest Ophthalmol Vis Sci (Abst. # 5123) 2008; 49.
   Google Scholar
• Kumar A, Duvvari MR, Prabhakaran VC, Shetty JS, Murthy GJ, Blanton SH. A homozygous mutation in LTBP2 causes isolated microspherophakia. Hum Genet 2010;128:365–371.
   PubMed Web of Science ®Google Scholar
• Khan AO, Aldahmesh MA, Al-Abdi L, et al. Molecular characterization of newborn glaucoma including a distinct aniridic phenotype. Ophthalmic Genet 2011;32:138–42.
   PubMed Web of Science ®Google Scholar