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. 1977 Jun;14(3):190–193. doi: 10.1136/jmg.14.3.190

Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome?

F C Fraser, T Gunn
PMCID: PMC1013555  PMID: 881709

Abstract

Twenty-one families were selected from the published reports in which the propositus had the triad of juvenile diabetes mellitus, diabetes insipidus, and optic atrophy. The data were consistent with the hypothesis of an autosomal gene which, in the homozygote, causes juvenile diabetes mellitus and one or more of diabetes insipidus, optic atrophy, and nerve deafness. Heterozygotes appear to have an increased probability of developing juvenile diabetes mellitus.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Bretz G. W., Baghdassarian A., Graber J. D., Zacherle B. J., Norum R. A., Blizzard R. M. Coexistence of diabetes mellitus and insipidus and optic atrophy in two male siblings. Studies and review of literature. Am J Med. 1970 Mar;48(3):398–403. doi: 10.1016/0002-9343(70)90071-9. [DOI] [PubMed] [Google Scholar]
  2. CASA D. Sul diabete giovanile misto famigliare. Acta Genet Med Gemellol (Roma) 1955 May;4(2):230–241. [PubMed] [Google Scholar]
  3. De Sanctis C., Dogliani P., Tognolo A. Associazione di diabete mellito, diabete insipido, atrofia ottica e malformazioni delle vie urinarie. Minerva Pediatr. 1972 May 26;24(19):790–795. [PubMed] [Google Scholar]
  4. Goddon LONGIN B., Mamelle J. C., Gilly R., François R. Association de diabète sucré, polyurodipsie et troubles sensoriels. A propos de deux observations, dont l'une à caractère familial. Pediatrie. 1973 Jun;28(4):429–445. [PubMed] [Google Scholar]
  5. Gunn T., Bortolussi R., Little J. M., Andermann F., Fraser F. C., Belmonte M. M. Juvenile diabetes mellitus, optic atrophy, sensory nerve deafness, and diabetes insipidus--a syndrome. J Pediatr. 1976 Oct;89(4):565–570. doi: 10.1016/s0022-3476(76)80387-3. [DOI] [PubMed] [Google Scholar]
  6. Ikkos D. G., Fraser G. R., Matsouki-Gavra E., Petrochilos M. Association of juvenile diabetes mellitus, primary optic atrophy and perceptive hearing loss in three sibs, with additional idiopathic diabetes mellitus insipidus in one case. Acta Endocrinol (Copenh) 1970 Sep;65(1):95–102. doi: 10.1530/acta.0.0650095. [DOI] [PubMed] [Google Scholar]
  7. Laffay G., Lestradet H. Diabète juvénile et atrophie optique primitive. Sem Hop. 1974 Jan 8;50(2):127–141. [PubMed] [Google Scholar]
  8. Marquardt J. L., Loriaux D. L. Diabetes mellitus and optic atrophy with associated findings of diabetes insipidus and neurosensory hearing loss in two siblings. Arch Intern Med. 1974 Jul;134(1):32–37. doi: 10.1001/archinte.134.1.32. [DOI] [PubMed] [Google Scholar]
  9. Moore J. R., MacGregor M. E. Juvenile diabetes mellitus, diabetes insipidus and neurological abnormalities. Proc R Soc Med. 1971 Jul;64(7):730–730. [PMC free article] [PubMed] [Google Scholar]
  10. Najjar S. S., Mahmud J. Diabetes insipidus and diabetes mellitus in a six-year-old girl. J Pediatr. 1968 Aug;73(2):251–253. doi: 10.1016/s0022-3476(68)80079-4. [DOI] [PubMed] [Google Scholar]
  11. RAITI S., PLOTKIN S., NEWNS G. H. DIABETES MELLITUS AND INSIPIDUS IN TWO SISTERS. Br Med J. 1963 Dec 28;2(5373):1625–1629. doi: 10.1136/bmj.2.5373.1625. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Rorsman G., Söderström N. Optic atrophy and juvenile diabetes mellitus with familial occurrence. Acta Med Scand. 1967 Oct;182(4):419–425. doi: 10.1111/j.0954-6820.1967.tb10865.x. [DOI] [PubMed] [Google Scholar]
  13. Rose F. C., Fraser G. R., Friedmann A. I., Kohner E. M. The association of juvenile diabetes mellitus and optic atrophy: clinical and genetical aspects. Q J Med. 1966 Jul;35(139):385–405. [PubMed] [Google Scholar]
  14. Sauer H., Chüden H., Gottesbüren H., Schmitz-Valckenberg P., Seitz D. Familiäres Vorkommen von Diabetes mellitus, primärer Opticusatrophie und Innenohrschwerhörigkeit. Dtsch Med Wochenschr. 1973 Feb 9;98(6):243–255. doi: 10.1055/s-0028-1106788. [DOI] [PubMed] [Google Scholar]
  15. Stevens P. R., Macfadyen W. A. Familial incidence of juvenile diabets mellitus, progressive optic atrophy, and neurogenic deafness. Br J Ophthalmol. 1972 Jun;56(6):496–500. doi: 10.1136/bjo.56.6.496. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Swift M. Diabetes-predisposing genes. Lancet. 1973 Sep 1;2(7827):497–497. doi: 10.1016/s0140-6736(73)92089-8. [DOI] [PubMed] [Google Scholar]
  17. Zellweger H., Hanhart E., Schneider H. J. A new genetic variant of the spinal muscular atrophies in infancy. J Med Genet. 1972 Dec;9(4):401–407. doi: 10.1136/jmg.9.4.401. [DOI] [PMC free article] [PubMed] [Google Scholar]

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