{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T17:37:30Z","timestamp":1790271450926,"version":"4.1.0"},"reference-count":11,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1995,12]]},"abstract":"<jats:p>Autosomal dominant optic atrophy (OPA, MIM 165500) is an eye disease causing a variable reduction of visual acuity with an insidious onset in the first six years of life. It is associated with a central scotoma and an acquired blue-yellow dyschromatopsia. A gene for dominant optic atrophy (OPA1) has recently been mapped to chromosome 3q in three large Danish pedigrees. Here, we confirm the mapping of OPA1 to chromosome 3q28-qter by showing close linkage of the disease locus to three recently reported microsatellite DNA markers in the interval defined by loci D3S1314 and D3S1265 in four French families (Zmax = 5.13 at theta = 0 for probe AFM 308yf1 at locus D3S1601). Multipoint analysis supports the mapping of the disease gene to the genetic interval defined by loci D3S1314 and D3S1265. The present study provides three new markers closely linked to the disease gene for future genetic studies in OPA.<\/jats:p>","DOI":"10.1136\/jmg.32.12.951","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"951-953","source":"Crossref","is-referenced-by-count":19,"title":["No evidence of genetic heterogeneity in dominant optic atrophy."],"prefix":"10.1136","volume":"32","author":[{"given":"D","family":"Bonneau","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Souied","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Gerber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J M","family":"Rozet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"D'Haens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Journel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Plessis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Weissenbach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Kaplan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1995,12,1]]},"reference":[{"key":"ref_1","first-page":"637","article-title":"Optic atrophy","volume-title":"Principles and practice of medical genetics","author":"Went, L.N.","year":"1990","unstructured":"Went LN. Optic atrophy. In: Emery AEH, Rimoin DL, eds. Principles and practice of medical genetics. Edinburgh: Churchill Livingstone, 1990:637-43."},{"issue":"54","key":"ref_2","first-page":"1","article-title":"Congenital optic atrophy with dominant mode of inheritance. A clinical and genetic study of","volume":"1959","author":"Kjer, P.","year":"19","unstructured":"Kjer P. Congenital optic atrophy with dominant mode of inheritance. A clinical and genetic study of 19 Danish families. Acta Ophthalmol Suppl 1959;54:1-146.","journal-title":"Acta Ophthalmol Suppl; Danish families"},{"key":"ref_3","first-page":"183","article-title":"Diagnostic criteria in dominantly inherited juvenile optic atrophy. A report of 3 new families","volume":"49","author":"Smith, D.P.","year":"1972","unstructured":"Smith DP. Diagnostic criteria in dominantly inherited juvenile optic atrophy. A report of 3 new families. Am.7 Optomn 1972;49: 183-200."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1680","DOI":"10.1001\/archopht.1979.01020020248013","article-title":"Dominant optic atrophy. The clinical profile","volume":"97","author":"Kline, L.S.; Glaser, J.S.","year":"1979","unstructured":"Kline LS, Glaser JS. Dominant optic atrophy. The clinical profile. Arch Ophthalmol 1979;97:1680-6.","journal-title":"Arch Ophthalmol"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/S0161-6420(80)35247-0","article-title":"Autosomal dominant optic atrophy. A spectrum of disability","volume":"87","author":"Hoyt, C.S.","year":"1980","unstructured":"Hoyt CS. Autosomal dominant optic atrophy. A spectrum of disability. Ophthalmology 1980;87:245-50.","journal-title":"Ophthalmology"},{"key":"ref_6","first-page":"977","article-title":"Dominant optic atrophy (OPAl) mapped to chromosome 3q region","volume":"3","author":"Eiberg, H.; Kjer, P.; Rosenberg, T.","year":"1994","unstructured":"Eiberg H, Kjer P, Rosenberg T. Dominant optic atrophy (OPAl) mapped to chromosome 3q region. I. Linkage analysis. Hunm Mol Genet 1994;3:977-80.","journal-title":"I. Linkage analysis. Hunm Mol Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1038\/359794a0","article-title":"A second generation linkage map of the human genome","volume":"359","author":"Weissenbach, J.; Gyapay, G.; Dib, C.","year":"1992","unstructured":"Weissenbach J, Gyapay G, Dib C, et al. A second generation linkage map of the human genome. Natuire 1992;359: 794-801.","journal-title":"Natuire"},{"key":"ref_8","first-page":"482","article-title":"Multilocus linkage analysis in human. Detection of linkage and estimation of recombination","volume":"37","author":"Lathrop, G.M.; Lalouel, J.M.; Julier, C.; Ott, J.","year":"1985","unstructured":"Lathrop GM, Lalouel JM, Julier C, Ott J. Multilocus linkage analysis in human. Detection of linkage and estimation of recombination. Am 7 Humi Genet 1985;37:482-98.","journal-title":"Am 7 Humi Genet"},{"key":"ref_9","first-page":"1879","article-title":"Tracheobronchial mucin 4 (MUC4) gene assignment to 3q29 and polymorphism VNTR type","volume":"58","author":"Nguyen, V.C.; Aubert, J.P.; Gross, M.S.; Porchet, N.; Degand, P.; Bernheim, A.","year":"1991","unstructured":"Nguyen VC, Aubert JP, Gross MS, Porchet N, Degand P, Bernheim A. Tracheobronchial mucin 4 (MUC4) gene assignment to 3q29 and polymorphism VNTR type. Cytogenet Cell Genet 1991;58:1879-80.","journal-title":"Cytogenet Cell Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1038\/303070a0","article-title":"Assignment of the gene for human melanoma-antigen p97 to chromosome 3","volume":"303","author":"Plowman, G.D.; Brown, J.P.; Enns, C.A.","year":"1983","unstructured":"Plowman GD, Brown JP, Enns CA, et al. Assignment of the gene for human melanoma-antigen p97 to chromosome 3. Nature 1983;303:70-2.","journal-title":"Nature"},{"key":"ref_11","first-page":"461","article-title":"A2HS: new methods of phenotyping and analysis of linkage relations: assignment to chromosome 3","volume":"37","author":"Eiberg, H.; Mohr, J.; Nielsen, L.S.","year":"1984","unstructured":"Eiberg H, Mohr J, Nielsen LS. A2HS: new methods of phenotyping and analysis of linkage relations: assignment to chromosome 3. Cytogenet Cell Genet 1984;37:461.","journal-title":"Cytogenet Cell Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.32.12.951","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:43:02Z","timestamp":1759689782000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.32.12.951"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,12]]},"references-count":11,"journal-issue":{"issue":"12","published-online":{"date-parts":[[1995,12,1]]},"published-print":{"date-parts":[[1995,12]]}},"alternative-id":["10.1136\/jmg.32.12.951"],"URL":"https:\/\/doi.org\/10.1136\/jmg.32.12.951","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,12]]}}}