Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Open angle glaucoma 3A

Open angle glaucoma 3A is an autosomal recessive disorder that is caused by mutations of the CYP1B1 gene.

Systematic

Open angle glaucoma 3
Open angle glaucoma 3A
CYP1B1
Open angle glaucoma 3B
Open angle glaucoma 3C
Open angle glaucoma 3D

References:

1.

Plásilová M et. al. (1999) Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma.

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2.

Bejjani BA et. al. (2000) Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.

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3.

Belmouden A et. al. (2002) A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco.

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4.

Melki R et. al. (2004) CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.

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5.

Sivadorai P et. al. (2008) Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies.

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6.

Stoilov I et. al. (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.

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7.

Bejjani BA et. al. (1998) Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.

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8.

Azmanov DN et. al. (2011) LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.

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9.

Pasutto F et. al. (2008) Profiling of WDR36 missense variants in German patients with glaucoma.

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10.

Gencíkova A et. al. (1982) Congenital glaucoma in Gypsies from Slovakia.

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11.

Ferák V et. al. (1982) Population genetic aspects of primary congenital glaucoma. II. Fitness, parental consanguinity, founder effect.

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12.

Demenais F et. al. (1981) Segregation analysis of congenital glaucoma: approach by two differential models.

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13.

Gencík A et. al. (1980) Genetic heterogeneity of congenital glaucoma.

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14.

Sarfarazi M et. al. (1995) Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity.

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15.

Plásilová M et. al. () Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia.

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16.

Law SK et. al. (2001) Serial axial length measurements in congenital glaucoma.

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17.

GRAHAM MV et. al. (1958) Bilateral congenital buphthalmos in two sisters.

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18.

HANNA BL et. al. (1962) Recessive buphthalmos in the rabbit.

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19.

BEIGUELMAN B et. al. (1963) RECESSIVE JUVENILE GLAUCOMA.

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20.

Kaur K et. al. (2005) Myocilin gene implicated in primary congenital glaucoma.

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21.

Chakrabarti S et. al. (2006) Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds.

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22.

Dimasi DP et. al. (2007) Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma.

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23.

Pasutto F et. al. (2010) Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.

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24.

López-Garrido MP et. al. (2009) Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2.

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25.

None (1950) [Familial occurrence and hereditary aspects of presenile & senile glaucoma].

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26.

Davidson AE et. al. (2014) Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness.

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27.

Gong B et. al. (2015) Mutation spectrum of CYP1B1 in Chinese patients with primary open-angle glaucoma.

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28.

Demenais F et. al. (1979) Congenital glaucoma: genetic models.

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29.

Bonaïti C et. al. (1978) Consanguinity in multifactorial inheritance. Application to data on congenital glaucoma.

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30.

None (1983) Further analysis of familial transmission of congenital glaucoma.

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31.

None (1982) Heterogeneity in nonsyndromal congenital glaucoma.

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Update: Sept. 26, 2018