Occurrence of <i>MYOC</i> and <i>CYP1B1</i> variants in juvenile open angle glaucoma Brazilian patients

Svidnicki, Paulo Vinícius; Braghini, Carolina Ayumi; Costa, Vital Paulino; Schimiti, Rui Barroso; Vasconcellos, José Paulo Cabral de; Melo, Mônica Barbosa de

doi:10.1080/13816810.2018.1546405

Cited by 20 publications

(18 citation statements)

References 39 publications

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“…• (Svidnicki et al, 2018) • POAG (Fingert et al, 1999;W. Liu et al, 2012;Shimizu et al, 2000) • Control Group (Fingert et al, 1999) Secretion Assay Alward et al, 1998;Faucher et al, 2002;Fingert et al, 1999;W.…”

Section: Histochemical Analysis and Animal Modelsmentioning

confidence: 99%

“…Liu et al, 2012;Whigham et al, 2011;Williams-Lyn et al, 2000) • Control group (W. L. Alward et al, 1998;Fingert et al, 1999;W. Liu et al, 2012;Svidnicki et al, 2018;Whigham et al, 2011) • PCG (Millá et al, 2013) Country/Ethnicity…”

Section: Histochemical Analysis and Animal Modelsmentioning

confidence: 99%

“…• n/a Secretion Assay Rose et al, 2011;Rozsa et al, 1998;Shimizu et al, 2000;Stoilova et al, 1998;Suzuki et al, 1997;Svidnicki et al, 2018;F. Taniguchi, 1999;Vasconcellos et al, 2000;Vincent et al, 2002;Wei et al, 2011;Wiggs et al, 1998) • POAG (Wei et al, 2005) Country/Ethnicity Suzuki et al, 1997;F.…”

Section: Cainst Diagnosismentioning

confidence: 99%

“…Diagnosis JOAG (Svidnicki et al, 2018) POAG (Fingert et al, 1999; W. Liu et al, 2012; Shimizu et al, 2000) Control Group (Fingert et al, 1999) …”

Section: Introductionmentioning

confidence: 99%

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Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data

et al. 2021

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Rare variants of the olfactomedin domain of myocilin are considered causative for inherited, early-onset open-angle glaucoma, with a misfolding toxic gain-of-function pathogenic mechanism detailed by 20 years of laboratory research. Myocilin variants are documented in the scientific literature and identified through large-scale genetic sequencing projects such as those curated in the Genome Aggregation Database (gnomAD). In the absence of key clinical and laboratory information, however, the pathogenicity of any given variant is not clear, because glaucoma is a heterogeneous and prevalent age-onset disease, and common variants are likely benign. In this review, we reevaluate the likelihood of pathogenicity for the~100 nonsynonymous missense, insertion-deletion, and premature termination of myocilin olfactomedin variants documented in the literature. We integrate available clinical, laboratory cellular, biochemical and biophysical data, the olfactomedin domain structure, and population genetics data from gnomAD. Of the variants inspected,~50% can be binned based on a preponderance of data, leaving many of uncertain pathogenicity that motivate additional studies. Ultimately, the approach of combining metrics from different disciplines will likely resolve outstanding complexities regarding the role of this misfolding-prone protein within the context of a multifactorial and prevalent ocular disease, and pave the way for new precision medicine therapeutics.

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Section: Histochemical Analysis and Animal Modelsmentioning

confidence: 99%

Section: Histochemical Analysis and Animal Modelsmentioning

confidence: 99%

Section: Cainst Diagnosismentioning

confidence: 99%

“…Diagnosis JOAG (Svidnicki et al, 2018) POAG (Fingert et al, 1999; W. Liu et al, 2012; Shimizu et al, 2000) Control Group (Fingert et al, 1999) …”

Section: Introductionmentioning

confidence: 99%

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Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data

et al. 2021

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“…This study augments the mutation spectrum of the MYOC gene, provides population-speci c information, and aids in better understanding the underlying lesions of the disease.Pathogenic variants in MYOC, CYP1B1, OPTN and, WDR36 were reported to cause open-angle glaucoma [7][8][9]. Among these, MYOC was the rst gene to be identi ed and responsible for POAG and JOAG phenotype in different populations [4,10]. Because the genetic causes of the JOAG vary in genetically distinct populations.…”

mentioning

confidence: 99%

Myocilin gene mutations: A cause of juvenile open-angle glaucoma in north India

Yadav

Deora

Sachdeva

et al. 2021

Preprint

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Purpose Juvenile-onset open-angle glaucoma (JOAG) is an uncommon type of primary open-angle glaucoma that affects individuals during childhood and early adulthood. Pathogenic variants in the myocilin gene account for varying frequencies of primary open-angle glaucoma and JOAG cases in different populations. This study has screened and identified novel and previously identified myocilin variants in a north Indian cohort of JOAG patients. Methods Eighty unrelated JOAG cases and one hundred controls have been screened for MYOC variants by PCR and DNA sequencing of exons. Results DNA sequencing revealed seventeen different variants. Out of these variants, five (p.G122A, p.R136I, p.S173T, p.K216I, and p.R200KTer*15) were novel and registered in NCBI. Pathogenic MYOC variants identified in 7.5% of JOAG cases. Conclusion Pathogenic myocilin variants account for 7.5% of cases of JOAG in our patient’s cohort. This study augments the mutation spectrum of the MYOC gene, provides population-specific information, and aids in better understanding the underlying lesions of the disease.

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A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant

Chacon‐Camacho,

Ordaz‐Robles,

Cid‐García

et al. 2024

American J of Med Genetics Pt A

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Doyne honeycomb retinal dystrophy (DHRD), also termed malattia leventinese (MLVT), is a dominantly inherited ocular disease characterized by the progressive accumulation of macular and peripapillary drusenoid material beneath the retinal pigment epithelium in the Bruch membrane. In all affected individuals genetically characterized to date, DHRD/MLVT is caused by a single heterozygous p.Arg345Trp missense variant in the EGF‐containing fibulin‐like extracellular matrix protein 1, EFEMP1. Recently, pathogenic variants in the EFEMP1 gene have also been demonstrated in several families with juvenile or adult‐onset hereditary isolated glaucoma. Here, we describe a family featuring a unique phenotype of juvenile glaucoma and DHRD/MLVT caused by a novel EFEMP1 variant. Our results expand both the ocular phenotype associated with EFEMP1 variants and the molecular spectrum causing DHRD by describing the first non‐p.Arg345Trp EFEMP1 pathogenic allele.

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Occurrence of MYOC and CYP1B1 variants in juvenile open angle glaucoma Brazilian patients

Cited by 20 publications

References 39 publications

Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data

Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data

Myocilin gene mutations: A cause of juvenile open-angle glaucoma in north India

A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant

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