|
Hydrophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In addition, we found an elevated frequency (8%) of heterozygous and rare PITX2 variants in the group of CG cases who were known to carry CYP1B1 glaucoma-associated genotypes, and one of these PITX2 variants arose de novo.
|
30657791 |
2019 |
|
Hydrophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Novel CYP1B1 mutations and a possible prognostic use for surgical management of congenital glaucoma.
|
31024815 |
2019 |
|
Hydrophthalmos
|
0.500 |
Biomarker
|
disease |
BEFREE |
In this study, we employed modern genomic approaches to re-examine CYP1B1-related congenital glaucoma.
|
29556725 |
2019 |
|
Hydrophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To report a mutation of CYP1B1 in a newborn with a rare phenotype without the classic features of anterior segment dysgenesis or congenital glaucoma.
|
28644236 |
2017 |
|
Hydrophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Functional characterization of eight rare missense CYP1B1 variants involved in congenital glaucoma and their association with null genotypes.
|
27060699 |
2016 |
|
Hydrophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
CYP1B1 mutation related congenital glaucoma can present with an extreme form of anterior segment dysgenesis that includes recalcitrant glaucoma, corneal opacification and aniridia.
|
24001018 |
2015 |
|
Hydrophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report here an 8-year-old patient with 22q11.2 deletion syndrome and bilateral Peters anomaly with congenital glaucoma; in addition, our patient was found to have a single heterozygous mutation in CYP1B1, c.83C > T, p.(Ser28Trp).
|
24024747 |
2015 |
|
Hydrophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Thus, it is important to screen other glaucoma-associated loci and genes for involvement in congenital glaucoma in cases that are either negative or heterozygous for MYOC, CYP1B1, and FOXC1 mutations to have better insight into the disease pathogenesis.
|
23378721 |
2013 |
|
Hydrophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutation in CYP1B1 has been reported for patients with congenital glaucoma.
|
23979599 |
2013 |
|
Hydrophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma.
|
23218183 |
2013 |
|
Hydrophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Most congenital glaucoma cases are mapped to the GLC3A locus, and many aspects of PCG are still unknown.
|
23401651 |
2013 |
|
Hydrophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The high percentage (9/25=36%) of mutations in CYP1B1 found in non-consanguineous patients with congenital glaucoma mandates genetic testing.
|
23922489 |
2013 |
|
Hydrophthalmos
|
0.500 |
Biomarker
|
disease |
BEFREE |
CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children.
|
23158549 |
2012 |
|
Hydrophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
On the Arabian Peninsula p.G61E mutations are the major cause of newborn glaucoma but novel CYP1B1 mutations continue to be documented.
|
21306220 |
2011 |
|
Hydrophthalmos
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
Seemingly unaffected siblings of children with CYP1B1-related primary congenital/infantile glaucoma should undergo genetic testing because of variable expressivity for the phenotype; such testing should also be considered for other asymptomatic relatives, especially in consanguineous families.
|
21730848 |
2011 |
|
Hydrophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The phenotype segregated with homozygous p.G61E CYP1B1 mutations while MYOC mutation was not detected, illustrating that mutations in CYP1B1 rather than mutation in MYOC can underlie familial primary juvenile glaucoma in certain populations.
|
21596299 |
2011 |
|
Hydrophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Classification of the developmental corneal opacity phenotype in infantile glaucoma patients with CYP1B1 mutations.
|
21600657 |
2011 |
|
Hydrophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Thus, it is important to screen other loci for involvement in congenital glaucoma in cases which are negative or heterozygous for CYP1B1 mutations to have a better insight in to disease pathogenesis.
|
21031026 |
2010 |
|
Hydrophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutation spectrum of the CYP1B1 gene for congenital glaucoma in the Japanese population.
|
20151268 |
2010 |
|
Hydrophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Hence, we decided to evaluate SWS cases with buphthalmos for 6 most prevalent CYP1B1 mutations by polymerase chain reaction-restriction-fragment length polymorphism followed by sequencing.
|
20051892 |
2010 |
|
Hydrophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The absence of homozygosity in the CYP1B1 locus in the affected individuals in 2 consanguineous inbred families, suggests that other genes take part in the causation of congenital glaucomas.
|
19593207 |
2010 |
|
Hydrophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Cytochrome P450 (CYP1B1) are a predominant cause of congenital glaucoma.
|
19536304 |
2009 |
|
Hydrophthalmos
|
0.500 |
Biomarker
|
disease |
BEFREE |
Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis.
|
19668597 |
2009 |
|
Hydrophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the cytochrome P4501B1 (CYP1B1) gene are a predominant cause of congenital glaucoma.
|
20057908 |
2009 |
|
Hydrophthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Five missense mutations associated with congenital glaucoma (Gly61Glu, Gly365Trp, Asp374Asn, Pro437Leu and Arg469Tryp) dramatically decreased the capacity of CYP1B1 to convert (-)benzo[a]pyrene-7R-trans-7,8-dihyrodiol (B[a]P-7,8-diol) to (+/-)benzo[a]pyrene-r-7,t-8-dihydrodiol-9,10-epoxides.
|
12807732 |
2003 |