Literature DB >> 881709

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

F C Fraser, T Gunn.   

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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Year:  1977        PMID: 881709      PMCID: PMC1013555          DOI: 10.1136/jmg.14.3.190

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  17 in total

1.  Diabetes mellitus and optic atrophy with associated findings of diabetes insipidus and neurosensory hearing loss in two siblings.

Authors:  J L Marquardt; D L Loriaux
Journal:  Arch Intern Med       Date:  1974-07

2.  [Juvenile diabetes and primary optic atrophy].

Authors:  G Laffay; H Lestradet
Journal:  Sem Hop       Date:  1974-01-08

3.  Diabetes-predisposing genes.

Authors:  M Swift
Journal:  Lancet       Date:  1973-09-01       Impact factor: 79.321

4.  [Association of diabetes mellitus, polyuria and polydipsia and sensory disturbances. Apropos of 2 cases, 1 of them familial].

Authors:  B Goddon LONGIN; J C Mamelle; R Gilly; R François
Journal:  Pediatrie       Date:  1973-06

5.  [Familial syndrome of diabetes mellitus, primary optic nerve atrophy and inner-ear deafness].

Authors:  H Sauer; H Chüden; H Gottesbüren; P Schmitz-Valckenberg; D Seitz
Journal:  Dtsch Med Wochenschr       Date:  1973-02-09       Impact factor: 0.628

6.  A new genetic variant of the spinal muscular atrophies in infancy.

Authors:  H Zellweger; E Hanhart; H J Schneider
Journal:  J Med Genet       Date:  1972-12       Impact factor: 6.318

7.  Familial incidence of juvenile diabets mellitus, progressive optic atrophy, and neurogenic deafness.

Authors:  P R Stevens; W A Macfadyen
Journal:  Br J Ophthalmol       Date:  1972-06       Impact factor: 4.638

8.  Association of juvenile diabetes mellitus, primary optic atrophy and perceptive hearing loss in three sibs, with additional idiopathic diabetes mellitus insipidus in one case.

Authors:  D G Ikkos; G R Fraser; E Matsouki-Gavra; M Petrochilos
Journal:  Acta Endocrinol (Copenh)       Date:  1970-09

9.  Juvenile diabetes mellitus, diabetes insipidus and neurological abnormalities.

Authors:  J R Moore; M E MacGregor
Journal:  Proc R Soc Med       Date:  1971-07

10.  Juvenile diabetes mellitus, optic atrophy, sensory nerve deafness, and diabetes insipidus--a syndrome.

Authors:  T Gunn; R Bortolussi; J M Little; F Andermann; F C Fraser; M M Belmonte
Journal:  J Pediatr       Date:  1976-10       Impact factor: 4.406

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  31 in total

1.  Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1.

Authors:  C Hardy; F Khanim; R Torres; M Scott-Brown; A Seller; J Poulton; D Collier; J Kirk; M Polymeropoulos; F Latif; T Barrett
Journal:  Am J Hum Genet       Date:  1999-11       Impact factor: 11.025

2.  Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.

Authors:  I N Bespalova; G Van Camp; S J Bom; D J Brown; K Cryns; A T DeWan; A E Erson; K Flothmann; H P Kunst; P Kurnool; T A Sivakumaran; C W Cremers; S M Leal; M Burmeister; M M Lesperance
Journal:  Hum Mol Genet       Date:  2001-10-15       Impact factor: 6.150

Review 3.  Wolfram syndrome.

Authors:  Jayne A L Minton; Lynne A Rainbow; Christopher Ricketts; Timothy G Barrett
Journal:  Rev Endocr Metab Disord       Date:  2003-03       Impact factor: 6.514

4.  Mitochondrial abnormalities in the DIDMOAD syndrome.

Authors:  S Bundey; K Poulton; H Whitwell; E Curtis; I A Brown; A R Fielder
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

5.  Balance impairment in individuals with Wolfram syndrome.

Authors:  Kristen A Pickett; Ryan P Duncan; Alex R Paciorkowski; M Alan Permutt; Bess Marshall; Tamara Hershey; Gammon M Earhart
Journal:  Gait Posture       Date:  2012-07-06       Impact factor: 2.840

6.  Decreased insulin secretion and increased risk of type 2 diabetes associated with allelic variations of the WFS1 gene: the Data from Epidemiological Study on the Insulin Resistance Syndrome (DESIR) prospective study.

Authors:  N Cheurfa; G M Brenner; A F Reis; D Dubois-Laforgue; R Roussel; J Tichet; O Lantieri; B Balkau; F Fumeron; J Timsit; M Marre; G Velho
Journal:  Diabetologia       Date:  2010-12-03       Impact factor: 10.122

7.  [Bilateral optic nerve atrophy in an 18-year-old female patient with diabetes mellitus].

Authors:  Jonathan Hall; Teresa Neuhann; Felix Treumer; Thomas Neuhann; Irmingard Neuhann
Journal:  Ophthalmologe       Date:  2020-09       Impact factor: 1.059

8.  Association of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. The Wolfram or DIDMOAD syndrome.

Authors:  S S Najjar; M G Saikaly; G M Zaytoun; A Abdelnoor
Journal:  Arch Dis Child       Date:  1985-09       Impact factor: 3.791

9.  Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia.

Authors:  J M van den Ouweland; G J Bruining; D Lindhout; J M Wit; B F Veldhuyzen; J A Maassen
Journal:  Nucleic Acids Res       Date:  1992-02-25       Impact factor: 16.971

10.  Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk.

Authors:  Katherine A Fawcett; Eleanor Wheeler; Andrew P Morris; Sally L Ricketts; Göran Hallmans; Olov Rolandsson; Allan Daly; Jon Wasson; Alan Permutt; Andrew T Hattersley; Benjamin Glaser; Paul W Franks; Mark I McCarthy; Nicholas J Wareham; Manjinder S Sandhu; Inês Barroso
Journal:  Diabetes       Date:  2009-12-22       Impact factor: 9.461

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