2005
DOI: 10.1111/j.1399-0004.2005.00411.x
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Myocilin gene implicated in primary congenital glaucoma

Abstract: Primary congenital glaucoma (PCG) has been associated with CYP1B1 gene (2p21), with a predominantly autosomal recessive mode of inheritance. Our earlier studies attributed CYP1B1 mutations to only 40% of Indian PCG cases. In this study, we included 72 such PCG cases where CYP1B1 mutations were detected in only 12 patients in heterozygous condition, implying involvement of other gene(s). On screening these patients for mutations in myocilin (MYOC), another glaucoma-associated gene, using denaturing high-perform… Show more

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Cited by 98 publications
(85 citation statements)
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“…PCG occurs in all ethnic groups, but the disease incidence varies according to ethnic background, ranging from 1:1,250 in inbred populations to 1:30,000 in populations with heterogeneous ethnicity (6,(8)(9)(10)(11)(12). Families can exhibit autosomal recessive or dominant inheritance, although the majority of cases appear to be sporadic (5,6,(10)(11)(12)(13)(14).…”
Section: Introductionmentioning
confidence: 99%
See 1 more Smart Citation
“…PCG occurs in all ethnic groups, but the disease incidence varies according to ethnic background, ranging from 1:1,250 in inbred populations to 1:30,000 in populations with heterogeneous ethnicity (6,(8)(9)(10)(11)(12). Families can exhibit autosomal recessive or dominant inheritance, although the majority of cases appear to be sporadic (5,6,(10)(11)(12)(13)(14).…”
Section: Introductionmentioning
confidence: 99%
“…The molecular etiology of PCG is only partially understood, as only a few genes responsible for PCG have been identified (6,(10)(11)(12)(13)(14). Mutations in CYP1B1, which encodes a cytochrome P450 enzyme, is the most common cause of autosomal recessive PCG worldwide, accounting for up to 87% of familial cases in some inbred populations but only 25%-27% in populations with heterogeneous ethnicity (5, 9, 15-18).…”
Section: Introductionmentioning
confidence: 99%
“…1 Interestingly, the existence of incomplete penetrance, variable expressivity and the fact that a significant proportion of patients carry nondominant heterozygous CYP1B1 mutations 1 suggest that more than one gene can be involved in PCG inheritance. Mutations in LTBP2, 2 MYOCILIN (MYOC, MIM# 601652) 3,4 and forkhead box C1 (FOXC1 MIM# 601090) have also been found in a small number of Indian PCG cases. 5 FOXC1 mutations have been found to be involved in several dominant ocular defects, including Axenfeld-Rieger syndrome type 3 (ARS; MIM# 602482), a disease that is associated with increased glaucoma risk and variability in iris and extraocular abnormalities.…”
Section: Introductionmentioning
confidence: 99%
“…MYOC (NM_000261.1), located on chromosome 1q24 (3 exons), also codes for the myocilin/ trabecular meshwork-induced glucocorticoid response protein and MYOC variants account for 5.5% of PCG cases [12]. A further chromosomal locus has been identified at position 1p36 (GLC3B) but no gene has been identified as yet [13].…”
Section: Mutational Spectrummentioning
confidence: 99%