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      A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family

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          Abstract

          Purpose

          To identify the genetic mutation associated with distinct cases of open-angle glaucoma noted in a Chinese family.

          Methods

          Clinical examination and pedigree analysis were undertaken in a family with a large number of primary open-angle glaucoma cases. Venous blood samples were drawn from six affected and six unaffected subjects in the family. Genomic DNA was extracted. Linkage to the optineurin gene ( OPTN) locus was not excluded. Potential mutation in OPTN was screened by polymerase chain reaction (PCR) analysis of its exon regions and direct sequencing.

          Results

          A missense mutation, A1274G, in exon 10 of OPTN was identified in affected patients of the family. The corresponding amino acid change was Lys322Glu. This mutation was not found in unaffected family members of the family or in 87 unrelated normal controls.

          Conclusions

          A novel mutation of a Lys322Glu change in OPTN is responsible for this familial case of primary open-angle glaucoma observed in northeastern China.

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          Adult-onset primary open-angle glaucoma caused by mutations in optineurin.

          Tayebeh Rezaie, Anne Child, Roger Hitchings … (2002)
          Primary open-angle glaucoma (POAG) affects 33 million individuals worldwide and is a leading cause of blindness. In a study of 54 families with autosomal dominantly inherited adult-onset POAG, we identified the causative gene on chromosome 10p14 and designated it OPTN (for "optineurin"). Sequence alterations in OPTN were found in 16.7% of families with hereditary POAG, including individuals with normal intraocular pressure. The OPTN gene codes for a conserved 66-kilodalton protein of unknown function that has been implicated in the tumor necrosis factor-alpha signaling pathway and that interacts with diverse proteins including Huntingtin, Ras-associated protein RAB8, and transcription factor IIIA. Optineurin is expressed in trabecular meshwork, nonpigmented ciliary epithelium, retina, and brain, and we speculate that it plays a neuroprotective role.
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            Identification of a gene that causes primary open angle glaucoma.

            E Stone, J Fingert, W Alward … (1997)
            Glaucoma is a major cause of blindness and is characterized by progressive degeneration of the optic nerve and is usually associated with elevated intraocular pressure. Analyses of sequence tagged site (STS) content and haplotype sharing between families affected with chromosome 1q-linked open angle glaucoma (GLC1A) were used to prioritize candidate genes for mutation screening. A gene encoding a trabecular meshwork protein (TIGR) mapped to the narrowest disease interval by STS content and radiation hybrid mapping. Thirteen glaucoma patients were found to have one of three mutations in this gene (3.9 percent of the population studied). One of these mutations was also found in a control individual (0.2 percent). Identification of these mutations will aid in early diagnosis, which is essential for optimal application of existing therapies.
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              Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31.

              Arlene V. Drack, L Streb, V Sheffield … (1993)
              Glaucoma is a significant cause of blindness world wide. There is evidence to suggest that at least a subset of the disease is determined genetically. We studied 37 members of a family affected with an autosomal dominant form of juvenile open angle glaucoma and 22 were found to be affected. Linkage analysis using short tandem repeat markers mapped the disease-causing gene to chromosome 1q21-q31. Eight markers were significantly linked (Zmax > 3.0) to the disease, with the highest lod score 6.5 (theta = 0), provided by D1S212. The atrial natriuretic peptide (ANP)/receptor system has been proposed to have a role in glaucoma and one of the ANP receptor genes maps to chromosome 1q.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Mol Vis
                Journal ID (publisher-id): MV
                Title: Molecular Vision
                Publisher: Molecular Vision
                ISSN (Electronic): 1090-0535
                Publication date Collection: 2009
                Publication date (Electronic): 20 August 2009
                Volume: 15
                Pages: 1649-1654
                Affiliations
                [1 ]Department of Ophthalmology, Second Affiliated Hospital of Harbin Medical University, Heilongjiang, Harbin, China
                [2 ]Department of Ophthalmology and Visual Science, School of Medicine, Yale University, New Haven, CT
                Author notes

                The first two authors contributed equally to this work.

                Correspondence to: Dr. Huiping Yuan, Department of Ophthalmology, Second Affiliated Hospital of Harbin Medical University, No.246 Xuefu Street, Nangang district, Harbin, Heilongjiang province, 150086, China; Phone: 86-451-55969288; FAX: 86-451-86605757; email: yuanhp@ 123456yahoo.com
                Article
                Publisher ID: 176 Publisher ID: 2008MOLVIS0193
                PMC ID: 2730747
                PubMed ID: 19710941
                SO-VID: 683a17fd-3874-4e09-9f05-3cff7c83453f
                Copyright statement: Copyright @ 2009
                License:

                This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 12 June 2008
                Date accepted : 14 August 2009
                Categories
                Subject: Research Article
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                GalleyStatus Export to XML
                corr-author Yuan

                ScienceOpen disciplines: Vision sciences
                Data availability:
                ScienceOpen disciplines: Vision sciences

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