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Maternally Inherited Diabetes and Deafness: A Multicenter Study

Pierre-Jean Guillausseau, MD; Pascale Massin, MD; Danièle Dubois-LaForgue, MD; José Timsit, MD; Marie Virally, MD; Henri Gin, MD, PhD; Eric Bertin, MD, PhD; Jean-Frédéric Blickle, MD; Béatrice Bouhanick, MD; Juliette Cahen, MD; Sophie Caillat-Zucman, MD; Guillaume Charpentier, MD; Pierre Chedin, MD; Christèle Derrien, MD; Pierre-Henri Ducluzeau, MD; André Grimaldi, MD; Bruno Guerci, MD; Edgar Kaloustian, MD; Arnaud Murat, MD; Frédérique Olivier, MD; Michel Paques, MD, PhD; Véronique Paquis-Flucklinger, MD, PhD; Béatrice Porokhov, MD; Julien Samuel-Lajeunesse, MD; and Bernard Vialettes, MD, MS
[+] Article and Author Information

From Lariboisière Hospital, Necker Hospital, and Pitié-Salpêtrière Hospital, Paris; University Hospital, Pessac; Robert Debré Hospital, Reims; University Hospital, Strasbourg; University Hospital, Angers; Victor-Dupouy Hospital, Argenteuil; Gilles de Corbeil Hospital, Corbeil; University Hospital, Rennes; Edouard-Herriot Hospital, Lyon; Jeanne d'Arc Hospital, Dommartin-les-Toul; Hospital, Compiègne; Hôtel Dieu Hospital, Nantes; Hospital, Cahors; UMR Centre National pour la Recherche Scientifique 6549, Nice; and Sainte Marguerite Hospital, Marseille, France.


Acknowledgments: The authors thank Mrs. Edith Audran for determination of mtDNA mutations; Mrs. Estelle André for secretarial assistance; and Ms. Catriona Donagh and David F. Mason, MD, for editorial assistance.

Requests for Single Reprints: Pierre-Jean Guillausseau, MD, Medecine B, Lariboisière Hospital, 2 rue Ambroise Paré, F75010 Paris, France; e-mail, pierre-jean.guillausseau@lrb.ap-hop-paris.fr.

Current Author Addresses: Drs. Guillausseau, Virally, Porokhov, and Samuel-Lajeunesse: Department of Medicine B, Lariboisière Hospital, 2 rue Ambroise Paré, F75010 Paris, University Paris 7-Denis Diderot, France.

Drs. Massin and Paques: Department of Ophthalmology, Lariboisière Hospital, 2 rue Ambroise Paré, F75010 Paris, France.

Drs. Dubois-LaForgue and Timsit: Diabetes Unit, Department of Clinical Immunology, Necker Hospital, 161 rue de Sèvres, F75015 Paris, France.

Dr. Gin: University Hospital, avenue Magellan, F33064 Pessac, France.

Dr. Bertin: Robert-Debré Hospital, rue Cognacq-Jay, F51100 Reims, France.

Dr. Blickle: University Hospital, 1 place de l'Hopital, F67091 Strasbourg, France.

Dr. Bouhanick: University Hospital, rue Larrey, F49033 Angers, France.

Drs. Cahen and Chedin: Victor-Dupouy Hospital, 69 rue du Lt-Colonel Prud'hon, F95107 Argenteuil, France.

Dr. Caillat-Zucman: Laboratory of Immunology, Necker Hospital, 161 rue de Sèvres, F75015 Paris, France.

Dr. Charpentier: Gilles de Corbeil Hospital, 59 boulevard Henri-Dunant, F91106 Corbeil, France.

Dr. Derrien: University Hospital, 16 boulevard de Bulgarie, F35056 Rennes, France.

Dr. Ducluzeau: Edouard-Herriot Hospital, place d'Arsonval, F69437 Lyon, France.

Dr. Grimaldi: Pitié-Salpêtrière Hospital, 83 boulevard de l'Hôpital, F75013 Paris, France.

Dr. Guerci: Jeanne d'Arc Hospital, BP 303, F54201 Dommartin-les-Toul, France.

Dr. Kaloustian: Hospital, 8 avenue Henri-Adnot, F60324 Compiègne, France.

Dr. Murat: Hôtel Dieu Hospital, 1 place Alexis-Ricordeau, F44035 Nantes, France.

Dr. Olivier: Hospital, 335 rue du Président Wilson, F46005 Cahors, France.

Dr. Paquis-Flucklinger: UMR Centre National pour la Recherche Scientifique 6549, Faculty of Medicine, avenue de Valombrose, F06107 Nice, France.

Dr. Vialettes: Sainte Marguerite Hospital, 270 boulevard Sainte-Marguerite, F13274 Marseille, France.

Author Contributions: Conception and design: P.J. Guillausseau, P. Massin, H. Gin, B. Vialettes.

Analysis and interpretation of the data: P.J. Guillausseau, P. Massin, D. Dubois-LaForgue, J. Timsit, M. Virally.

Drafting of the article: P.J. Guillausseau, P. Massin, D. Dubois-LaForgue, J. Timsit.

Critical revision of the article for important intellectual content: P. Massin, J. Timsit, M. Virally, B. Vialettes.

Final approval of the article: P. Massin, D. Dubois-LaForgue, J. Timsit, M. Virally, H. Gin, E. Bertin, J.F. Blickle, B. Bouhanick, J. Cahen, S. Caillat-Zucman, G. Charpentier, P. Chedin, C. Derrien, P.H. Ducluzeau, A. Grimaldi, B. Guerci, E. Kaloustian, A. Murat, F. Olivier, M. Paques, V. Paquis-Flucklinger, B. Porokhov, J. Samuel-Lajeunesse, B. Vialettes.

Provision of study materials or patients: P.J. Guillausseau, D. Dubois-LaForgue, J. Timsit, H. Gin, E. Bertin, J.F. Blickle, B. Bouhanick, J. Cahen, S. Caillat-Zucman, G. Charpentier, P. Chedin, C. Derrien, P.H. Ducluzeau, A. Grimaldi, B. Guerci, E. Kaloustian, A. Murat, F. Olivier, M. Paques, V. Paquis-Flucklinger, B. Porokhov, J. Samuel-Lajeunesse, B. Vialettes.

Obtaining of funding: D. Dubois-LaForgue

Collection and assembly of data: P.J. Guillausseau.


Ann Intern Med. 2001;134(9_Part_1):721-728. doi:10.7326/0003-4819-134-9_Part_1-200105010-00008
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Mitochondrial (mt) gene abnormalities cause disease due to defects in oxidative production of energy (1). In 1990, Goto and colleagues (2) described the co-segregation of a syndrome called mitochondrial encephalopathy, lactic acidosis, and strokelike episodes (which is sometimes associated with diabetes) and an A to G transition at position 3243 of mtDNA, encoding transfer RNA leucine (tRNALeu [UUR]). In 1992, a subtype of diabetes called maternally inherited diabetes and deafness (MIDD) was reported to co-segregate with the same point mutation (34). Maternally inherited diabetes and deafness was initially characterized by matrilineal transmission, associated hearing loss, or both, without major neurologic defects. In MIDD, diabetes seems to be due primarily to a defect in insulin secretion (49), while insulin sensitivity is unaltered (8, 10). An estimated 0.5% to 2.8% of diabetic patients have MIDD (9, 1116). Because most reported series have been small, the clinical description of MIDD and its course, particularly the occurrence of diabetic complications, remains incomplete. The aims of our study were to delineate the clinical presentation of MIDD, including involvement of other organs, in a large series of patients and to assess the prevalence of diabetic microvascular and macrovascular complications.

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Figure 1. Early macular pattern dystrophy in a patient with maternally inherited diabetes and deafness. Fluorescein angiography shows small pigmented deposits in the macula. Advanced macular pattern dystrophy in a patient with maternally inherited diabetes and deafness. Fluorescein angiography shows mild atrophy of the retinal pigment epithelium at the posterior pole, combined with peripapillar and perimacular subretinal pigmented deposits.
Macular pattern dystrophy.Top.Bottom.
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Figure 2. Eleven percent of the mutated mitochondrial DNA was found in lymphocytes, and 74% was found in muscle (Gomori trichrome; original magnification, ×250).
Ragged-red fibers on deltoid biopsy specimen in a 49-year-old woman with maternally inherited diabetes and deafness.
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