{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T16:17:18Z","timestamp":1768925838396,"version":"3.49.0"},"reference-count":33,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,11]]},"abstract":"<jats:p>Glaucoma describes a clinically and genetically heterogeneous group of diseases that result in optic neuropathy and progressive loss of visual fields. A gene for juvenile onset primary open angle glaucoma JOAG) has recently been mapped to 1q21-31. Mutations in the trabecular meshwork induced glucocorticoid response gene (TIGR, also known as myocilin or the GLC1A locus) have been found to cause both juvenile and later onset primary open angle glaucoma. Family TCD-POAG1 is a Spanish kindred, which segregates JOAG in an autosomal dominant fashion. This family was found to be linked to the previously identified GLC1A locus on chromosome 1q. Direct sequencing of the TIGR\/myocilin gene showed a heterozygous A to C transition in codon 380, resulting in the substitution of alanine for aspartic acid (Asp380Ala). This substitution created a StyI restriction site, which segregated with the JOAG phenotype and permitted rapid screening of all members of the family. This restriction site was not present in 60 controls.<\/jats:p>","DOI":"10.1136\/jmg.35.11.957","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"957-960","source":"Crossref","is-referenced-by-count":31,"title":["A novel Asp380Ala mutation in the GLC1A\/myocilin gene in a family with juvenile onset primary open angle glaucoma."],"prefix":"10.1136","volume":"35","author":[{"given":"A M","family":"Kennan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F C","family":"Mansergh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J H","family":"Fingert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Clark","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Ayuso","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P F","family":"Kenna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Humphries","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G J","family":"Farrar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1998,11,1]]},"reference":[{"key":"ref_1","first-page":"272","article-title":"Molecular genetics of the glaucomas: mapping of the first five GLC loci","volume":"60","author":"Raymond, V.","year":"1997","unstructured":"Raymond V. 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Hum Mol Genet 1997;6:641-7.","journal-title":"Hum Mol Genet"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1038\/ng0593-47","article-title":"Genetic linkage of familial open angle glaucoma to chromosome 1q21q31","volume":"4","author":"Sheffield, V.C.; Stone, E.M.; Alward, W.L.M.","year":"1993","unstructured":"Sheffield VC, Stone EM, Alward WLM, et al. Genetic linkage of familial open angle glaucoma to chromosome 1q21q31. Nat Genet 1993;4:47-50.","journal-title":"Nat Genet"},{"key":"ref_19","first-page":"62","article-title":"Mapping of a gene for autosomal dominant juvenile-onset open angle glaucoma to chromosome Iq","volume":"54","author":"Richards, J.E.; Lichter, P.R.; Boehnke, M.","year":"1994","unstructured":"Richards JE, Lichter PR, Boehnke M, et al. Mapping of a gene for autosomal dominant juvenile-onset open angle glaucoma to chromosome Iq. 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Linkage between juvenile glaucoma and chromosome Iq in two French families.C R Acad Sci (Paris) 1994;317:565-70.","journal-title":"C R Acad Sci (Paris)"},{"key":"ref_22","first-page":"285","article-title":"Confirmation of linkage to 1 q21-31 in a Danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity","volume":"96","author":"Graff, C.; Urbak, S.F.; Jerndal, T.; Wadelius, C.","year":"1995","unstructured":"Graff C, Urbak SF, Jerndal T, Wadelius C. Confirmation of linkage to 1 q21-31 in a Danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity. 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Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain ofTIGR in familial open angle glaucoma. Hum Mol Genet 1997;6:2091-7.","journal-title":"Hum Mol Genet"},{"key":"ref_25","first-page":"1670","article-title":"Two novel mutations in the TIGR gene in primary open angle glaucoma","volume":"61","author":"Mansergh, F.C.; Kenna, P.F.; Ayuso, C.; Kiang, A.S.; Humphries, P.; Farrar, G.J.","year":"1997","unstructured":"Mansergh FC, Kenna PF, Ayuso C, Kiang AS, Humphries P, Farrar GJ. Two novel mutations in the TIGR gene in primary open angle glaucoma. Am Jf Hum Genet Suppl 1997;61: 1670.","journal-title":"Am Jf Hum Genet Suppl"},{"key":"ref_26","first-page":"102","article-title":"Characterization of the glaucoma phenotypes associated with two mutations in the GLC1A gene","volume":"61","author":"Fingert, J.H.; Clark, T.D.; Beck, G.","year":"1997","unstructured":"Fingert JH, Clark TD, Beck G, et al. 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Hum Mutat 1998;11: 244-51.","journal-title":"Hum Mutat"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1006\/geno.1997.4682","article-title":"A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor molecular cloning, tissue expression, and chromosomal mapping","volume":"41","author":"Kubota, R.; Noda, S.; Wang, Y.","year":"1997","unstructured":"Kubota R, Noda S, Wang Y, et al. A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor molecular cloning, tissue expression, and chromosomal mapping. 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