{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T08:50:10Z","timestamp":1762505410540,"version":"build-2065373602"},"reference-count":22,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1994,4]]},"abstract":"<jats:p>DIDMOAD is usually considered an autosomal recessive condition, with wide phenotypic variation, but the possibility of mitochondrial mutations occurring in this condition has been considered. A 19 year old man presented with long standing diabetes mellitus, optic atrophy, and grand mal seizures. Further investigations showed unilateral sensorineural hearing loss and the most common mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy, which was inherited from his mother. This suggests the DIDMOAD phenotype is a mitochondrial disorder in some cases and is likely to have a heterogeneous aetiology.<\/jats:p>","DOI":"10.1136\/jmg.31.4.328","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"328-330","source":"Crossref","is-referenced-by-count":29,"title":["Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD)."],"prefix":"10.1136","volume":"31","author":[{"given":"D","family":"Pilz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O W","family":"Quarrell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E W","family":"Jones","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1994,4,1]]},"reference":[{"key":"ref_1","first-page":"715","article-title":"Diabetes mellitus and simple optic atrophy amongst siblings","volume-title":"Mayo Clin Proc 1938; 13","author":"Wolfram, D.J.; Wagner, H.P.","unstructured":"Wolfram DJ, Wagner HP. Diabetes mellitus and simple optic atrophy amongst siblings. Mayo Clin Proc 1938;13:715-18."},{"key":"ref_2","first-page":"3","article-title":"Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram synrome)","volume":"264","author":"Cremers, C.W.R.J.; Vijdeveld, P.G.A.B.; Pinkers, A.J.L.G.","year":"1977","unstructured":"Cremers CWRJ, Vijdeveld PGAB, Pinkers AJLG. Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram synrome). Acta Paediatr Scand Suppi 1977;264:3-16.","journal-title":"Acta Paediatr Scand Suppi"},{"key":"ref_3","first-page":"34","article-title":"The Wolfram syndrome: a primary degenerative disorder with lethal potential","volume":"85","author":"Kinsey, B.T.; Firth, R.G.F.","year":"1992","unstructured":"Kinsey BT, Firth RGF. The Wolfram syndrome: a primary degenerative disorder with lethal potential. Irish Med J 1992; 85:34-6.","journal-title":"Irish Med J"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1016\/S0022-3476(89)80558-X","article-title":"Thiamine responsive anaemia in DIDMOAD syndrome","volume":"114","author":"Borgna-Pignatti, C.; Marradi, P.; Pinelli, L.; Monetti, N.; Patrini, C.","year":"1989","unstructured":"Borgna-Pignatti C, Marradi P, Pinelli L, Monetti N, Patrini C. Thiamine responsive anaemia in DIDMOAD syndrome. J Pediatr 1989;114:405-10.","journal-title":"J Pediatr"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1136\/jmg.14.3.190","article-title":"Diabetes mellitus, diabetes insipidus and optic atrophy: an autosomal recessive syndrome?","volume":"14","author":"Fraser, F.C.; Gunn, T.","year":"1977","unstructured":"Fraser FC, Gunn T. Diabetes mellitus, diabetes insipidus and optic atrophy: an autosomal recessive syndrome? J Med Genet 1977; 14:190-3.","journal-title":"J Med Genet"},{"key":"ref_6","first-page":"15","article-title":"Mitochondrial abnormalities in the DIDMOAD syndrome","volume":"15","author":"Bundey, S.; Poulton, K.; Whitwell, H.; Curtis, E.; Brown, I.A.R.; Pilz, Quarrell; Jones Fielder, A.R.","year":"1992","unstructured":"Bundey S, Poulton K, Whitwell H, Curtis E, Brown IAR, Pilz, Quarrell, Jones Fielder AR. Mitochondrial abnormalities in the DIDMOAD syndrome. Inher Metab Dis 1992;15:B15-B19.","journal-title":"Inher Metab Dis"},{"article-title":"Leber's hereditary optic neuropathy","author":"Harding, A.E.","key":"ref_7","unstructured":"Harding AE. Leber's hereditary optic neuropathy. In: Di Mauro S, Schapira AHV, eds, Mitochondrial diseases. London: Butterworth, (in press)."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1007\/BF01720362","article-title":"The syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities (DIDMOAD syndrome)","volume":"60","author":"Dreyer, M.; Ruediger, H.W.; Bujara, K.","year":"1982","unstructured":"Dreyer M, Ruediger HW, Bujara K, et al. The syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities (DIDMOAD syndrome). Klin Wochenschr 1982;60:471-5.","journal-title":"Klin Wochenschr"},{"key":"ref_9","first-page":"696","article-title":"Pre-excitation syndrome and Leber's hereditary optic neuroretinopathy","volume":"i:","year":"1985","unstructured":"Nikoskelainen E, Wanne 0, Dahl M. Pre-excitation syndrome and Leber's hereditary optic neuroretinopathy. Lancet 1985;i:696.","journal-title":"Lancet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1093\/brain\/115.4.979","article-title":"Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation","volume":"115","author":"Harding, A.E.; Sweeney, M.G.; Miller, D.H.","year":"1992","unstructured":"Harding AE, Sweeney MG, Miller DH, et al. Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation. Brain 1992;115:979-89.","journal-title":"Brain"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1016\/S0002-9394(14)76784-4","article-title":"The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation","volume":"111","author":"Newman, N.J.; Lott, M.T.; Wallace, D.C.","year":"1991","unstructured":"Newman NJ, Lott MT, Wallace DC. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am Ophthalmol 1991;111:750-62.","journal-title":"Am Ophthalmol"},{"issue":"1","key":"ref_12","first-page":"1","article-title":"Maternally transmitted diabetes and deafness associated with a 104 kb mitochondrial DNA deletion","volume":"1","author":"Ballinger, S.W.; Shoffner, J.M.; Hedaya, E.V.","year":"1992","unstructured":"Ballinger SW, Shoffner JM, Hedaya EV, et al. Maternally transmitted diabetes and deafness associated with a 104 kb mitochondrial DNA deletion. Nature Genet 1992;1:1 1-15.","journal-title":"Nature Genet"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1376","DOI":"10.1016\/0140-6736(92)92560-3","article-title":"Diabetes mellitus associated with a pathogenetic point mutation in mitochondrial DNA","volume":"340","author":"Reardon, W.; Ross, R.J.M.; Sweeney, M.G.","year":"1992","unstructured":"Reardon W, Ross RJM, Sweeney MG, et al. Diabetes mellitus associated with a pathogenetic point mutation in mitochondrial DNA. Lancet 1992;340:1376-9.","journal-title":"Lancet"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1126\/science.3201231","article-title":"Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy","volume":"242","author":"Wallace, D.C.; Singh, G.; Lott, M.T.","year":"1988","unstructured":"Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988;242:1427-30.","journal-title":"Science"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1007\/BF01799603","article-title":"Clinical aspects of mitochondrial disorders","volume":"15","author":"Munnich, A.; Rustin, P.; Roetig, A.","year":"1992","unstructured":"Munnich A, Rustin P, Roetig A, et al. Clinical aspects of mitochondrial disorders. Inher Metab Dis 1992;15:448-55.","journal-title":"Inher Metab Dis"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1172\/JCI116267","article-title":"Deletion of the mitochondrial DNA in a case of early onset diabetes mellitus, optic atrophy and deafness","volume":"91","author":"Roetig, A.; Cornier, V.; Chatelain, P.","year":"1993","unstructured":"Roetig A, Cornier V, Chatelain P, et al. Deletion of the mitochondrial DNA in a case of early onset diabetes mellitus, optic atrophy and deafness. Clin Invest 1993;91:1095-8.","journal-title":"Clin Invest"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1136\/jmg.29.2.86","article-title":"Sensorineural deafness inherited as a tissue specific mitochondrial disorder","volume":"29","author":"Jaber, L.; Shohat, M.; Bu, X.","year":"1992","unstructured":"Jaber L, Shohat M, Bu X, et al. Sensorineural deafness inherited as a tissue specific mitochondrial disorder. Med Genet 1992;29:86-90.","journal-title":"Med Genet"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"8198","DOI":"10.1073\/pnas.88.18.8198","article-title":"X-chromosome-linked and mitochondrial gene control of Leber's optic neuropathy. Evidence from segregation analysis for dependence on X chromosome inactivation","volume":"88","author":"Bu, X.; Rotter, J.I.","year":"1991","unstructured":"Bu X, Rotter JI. X-chromosome-linked and mitochondrial gene control of Leber's optic neuropathy. Evidence from segregation analysis for dependence on X chromosome inactivation. Proc Natl Acad Sci USA 1991;88:8198-202.","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref_19","first-page":"486","article-title":"Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7","volume":"48","author":"Vilkki, J.; Ott, J.; Savontaus, M.-L.; Aula, P.; Nikoskelainen, E.K.","year":"1991","unstructured":"Vilkki J, Ott J, Savontaus M-L, Aula P, Nikoskelainen EK. Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7. Am Hum Genet 1991;48:486-91.","journal-title":"Am Hum Genet"},{"key":"ref_20","first-page":"741","article-title":"Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy","volume":"51","author":"Sweeney, M.G.; Davis, M.B.; Lashwood, A.; Brockington, M.; Toscano, A.; Harding, A.","year":"1992","unstructured":"Sweeney MG, Davis MB, Lashwood A, Brockington M, Toscano A, Harding A. Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy. Am Hum Genet 1992;51:741-8.","journal-title":"Am Hum Genet"},{"key":"ref_21","first-page":"289","article-title":"Re-evaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON)","volume":"53","author":"Juvonen, V.; Vilkki, J.; Aula, P.; Nikoskelainen, E.; Savontaus, M.L.","year":"1992","unstructured":"Juvonen V, Vilkki J, Aula P, Nikoskelainen E, Savontaus ML. Re-evaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON). Am Hum Genet 1992;53:289-92.","journal-title":"Am Hum Genet"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1016\/0140-6736(93)91416-J","article-title":"Wolfram syndrome: a mitochondrialmediated disorder?","volume":"342","author":"Bu, X.; Rotter, J.I.","year":"1993","unstructured":"Bu X, Rotter JI. Wolfram syndrome: a mitochondrialmediated disorder? Lancet 1993;342:598-600.","journal-title":"Lancet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.31.4.328","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:17:22Z","timestamp":1760725042000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.31.4.328"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,4]]},"references-count":22,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1994,4,1]]},"published-print":{"date-parts":[[1994,4]]}},"alternative-id":["10.1136\/jmg.31.4.328"],"URL":"https:\/\/doi.org\/10.1136\/jmg.31.4.328","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1994,4]]}}}