Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Myocilin

Mutations of this gene cause juvenile-onset primary open angle glaucoma.

Epidemiology

The mutation is mostly described in Caucasians. In about 4% of patients with primary open angle glaucoma this mutation is present.

Gene Structure

The gene MYOC, formerly named GLC1A, is about 17kb in size. It consists of 3 large exons. It is located on chromosome 1 (1q24.3-q25.2).

Phenotype

The clinical picture is the juvenile open angle glaucoma.

Pathology

The protein product of that gene is the trabecular meshwork-induced glucocorticoid response protein (TIGR). It was assumed that a mutation of this gene causes disturbances of ocular water efflux. But more recent investigations showed its function ocular muscles.

Test Strategy

Patients with primary open angle glaucoma and family history. Other members of an affected family.

Interpretation

The importance of this investigation is in family consulting and early diagnosis of family members.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Open angle glaucoma 1A
MYOC
Open angle glaucoma 1L
MYOC

References:

1.

Alward WL et al. (1998) Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

external link
2.

Kanagavalli J et al. (2004) A review of genetic and structural understanding of the role of myocilin in primary open angle glaucoma.

external link
3.

NCBI article

NCBI 4653 external link
4.

OMIM.ORG article

Omim 601652 external link
5.

Orphanet article

Orphanet ID 123659 external link
6.

Wikipedia article

Wikipedia EN (Myocilin) external link
Update: Aug. 14, 2020
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