Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Weitwinkelglaukom 3A

Das Weitwinkelglaukom 3A ist eine autosomal rezessive Erkrankung, die durch Mutationen im CYP1B1-Gen ausgelöst wird.

Gliederung

Weitwinkelglaukom 3
Weitwinkelglaukom 3A
CYP1B1
Weitwinkelglaukom 3B
Weitwinkelglaukom 3C
Weitwinkelglaukom 3D

Referenzen:

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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