Assignment of a Locus (GLC3A) for Primary Congenital Glaucoma (Buphthalmos) to 2p21 and Evidence for Genetic Heterogeneity

Sarfarazi, Mansoor; Akarsu, Ayşegül; Hossain, Altaf; Turáçli, M. Erol; Aktan, Sedat; Barsoum-Homsy, Magda; Chevrette, Line; Sayli, B S

doi:10.1006/geno.1995.9888

Cited by 208 publications

(116 citation statements)

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“…This defect is inherited in an autosomal recessive manner (François , 1980). A major gene, CYP1B1 (MIM# 601771), belonging to the superfamily of cytochromes P450 and mapping on chromosome 2p21, has been identified (Sarfarazi et al, 1995;Stoilov et al 1997). Numerous mutations of this gene have been characterized in PCG patients from different populations (Sarfarazi and Stoilov, 2000).…”

Section: Introductionmentioning

confidence: 99%

Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France

2003

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The CYP1B1 gene (GenBank: U56438), a member of the cytochrome P450 gene family, has been shown to be mutated in patients with primary congenital glaucoma (PCG), a rare but severely blinding form of glaucoma. Here, we have investigated CYP1B1 mutations in 31 unrelated French PCG patients. Mutations were found in 15 (48%) patients. Six of these mutations were novel. One, g.3979delA, caused a frameshift followed by a stop codon at residue 59. Two mutations, g.4547C>T (p.Q248X) and g.8167C>T (p.R444X), created a stop codon. Three other mutations, g.4499G>C (p.G232R), g.8033T>G (p.I399S), (p.N423Y), induced a significant amino acid change. Seven patients, who were of French descent, were compound heterozygotes. Six patients, whose families came from North Africa or from Portugal, carried a homozygous mutation reflecting their geographic origin. Intriguingly, one mutation, p.E229K, was present in heterozygous state in two unrelated patients. All together, these findings demonstrate the major role and the diversity of CYP1B1 mutations in French PCG patients.

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Section: Introductionmentioning

confidence: 99%

Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France

2003

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“…Sarfarazi and colleagues mapped GLC3A as a putative PCG locus to 2p21 in 11 Turkish families, and the D2S177 microsatellite, located 270 kb telomeric to the CYP1B1 gene, showed a maximal LOD score of 9.40. 22 Bejjani and colleagues also reported that the maximal LOD score was 15.76 with D2S177 in 25 Saudi Arabian PCG families. 23 Recently, it has been reported that the D2S177 allele was associated with CYP1B1 mutations related to PCG.…”

Section: Discussionmentioning

confidence: 95%

Investigation of the association between the GLC3A locus and normal tension glaucoma in Japanese patients by microsatellite analysis

Kamio

Meguro

et al. 2009

OPTH

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Purpose: To investigate whether the GLC3A locus harboring the CYP1B1 gene is associated with normal tension glaucoma (NTG) in Japanese patients. Materials and Methods: One hundred forty-two Japanese patients with NTG and 101 Japanese healthy controls were recruited. Patients exhibiting a comparatively early onset were selected as this suggests that genetic factors may show stronger involvement. Genotyping and assessment of allelic diversity was performed on 13 highly polymorphic microsatellite markers in and around the GLC3A locus. Results: There were decreased frequencies of the 444 allele of D2S0416i and the 258 allele of D2S0425i in cases compared to controls (P = 0.022 and P = 0.034, respectively). However, this statistical signifi cance disappeared when corrected (Pc Ͼ 0.05). We did not fi nd any signifi cant association between the remaining 11 microsatellite markers, including D2S177, which may be associated with CYP1B1, and NTG (P Ͼ 0.05). Conclusions: Our study showed no association between the GLCA3 locus and NTG, suggesting that the CYP1B1 gene, which is reportedly involved in a range of glaucoma phenotypes, may not be an associated factor in the pathogenesis of NTG.

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“…Reduced penetrance (40% in some populations) and various phenotypic forms suggests a polygenic inheritance pattern or multifactorial aetiologies. Genetic linkage studies, started in 1995, identified two separate loci (GLC3A on 2p21 and GLC3B on 1p36) associated with the disease, thus confirming that CG is genetically heterogeneous (Ohtake et al, 2003) (Sarfarazi et al, 1995). A few years later Sarfarazi reported that the cytochrome P4501B1 gene (CYP1B1, OMIM 601771), located within the GLC3A locus, was mutated in individuals with CG (Akarsu et al, 1996).…”

Section: Introductionmentioning

confidence: 91%

Molecular analysis of Italian patients with congenital glaucoma

Giuffrè¹

2011

Ophthalmic Genet

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Assignment of a Locus (GLC3A) for Primary Congenital Glaucoma (Buphthalmos) to 2p21 and Evidence for Genetic Heterogeneity

Cited by 208 publications

References 0 publications

Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France

Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France

Investigation of the association between the GLC3A locus and normal tension glaucoma in Japanese patients by microsatellite analysis

Molecular analysis of Italian patients with congenital glaucoma

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