Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion

A. Barrientos, J. Casademont, A. Saiz, F. Cardellach, V. Volpini, A. Solans, E. Tolosa, A. Urbano-Márquez, Xavier P. Estivill, V. Nunes

Research output: Contribution to journalArticle

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Abstract

Wolfram syndrome (MIM 222300) is characterized by optic atrophy, diabetes mellitus, diabetes insipidus, neurosensory hearing loss, urinary tract abnormalities, and neurological dysfunction. The association of clinical manifestations in tissues and organs unrelated functionally or embryologically suggested the possibility of a mitochondrial implication in the disease, which has been demonstrated in two sporadic cases. Nonetheless, familial studies suggested an autosomal recessive mode of transmission, and recent data demonstrated linkage with markers on the short arm of human chromosome 4. The patient reported here, as well as her parents and unaffected sister, carried a heteroplasmic 8.5-kb deletion in mtDNA. The deletion accounted for 23% of mitochondrial genomes in lymphocytes from the patient and ~5% in the tissues studied from members of her family. The presence of the deletion in the patient in a proportion higher than in her unaffected parents suggests a putative defect in a nuclear gene that acts at the mitochondrial level.

Original languageEnglish
Pages (from-to)963-970
Number of pages8
JournalAmerican Journal of Human Genetics
Volume58
Issue number5
Publication statusPublished - 1996
Externally publishedYes

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Wolfram Syndrome
Mitochondrial DNA
Parents
Optic Atrophy
Diabetes Insipidus
Chromosomes, Human, Pair 4
Mitochondrial Genome
Information Storage and Retrieval
Human Chromosomes
Urinary Tract
Hearing Loss
Siblings
Diabetes Mellitus
Lymphocytes
Genes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Barrientos, A., Casademont, J., Saiz, A., Cardellach, F., Volpini, V., Solans, A., ... Nunes, V. (1996). Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion. American Journal of Human Genetics, 58(5), 963-970.

Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion. / Barrientos, A.; Casademont, J.; Saiz, A.; Cardellach, F.; Volpini, V.; Solans, A.; Tolosa, E.; Urbano-Márquez, A.; Estivill, Xavier P.; Nunes, V.

In: American Journal of Human Genetics, Vol. 58, No. 5, 1996, p. 963-970.

Research output: Contribution to journalArticle

Barrientos, A, Casademont, J, Saiz, A, Cardellach, F, Volpini, V, Solans, A, Tolosa, E, Urbano-Márquez, A, Estivill, XP & Nunes, V 1996, 'Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion', American Journal of Human Genetics, vol. 58, no. 5, pp. 963-970.
Barrientos A, Casademont J, Saiz A, Cardellach F, Volpini V, Solans A et al. Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion. American Journal of Human Genetics. 1996;58(5):963-970.
Barrientos, A. ; Casademont, J. ; Saiz, A. ; Cardellach, F. ; Volpini, V. ; Solans, A. ; Tolosa, E. ; Urbano-Márquez, A. ; Estivill, Xavier P. ; Nunes, V. / Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion. In: American Journal of Human Genetics. 1996 ; Vol. 58, No. 5. pp. 963-970.
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AU - Casademont, J.

AU - Saiz, A.

AU - Cardellach, F.

AU - Volpini, V.

AU - Solans, A.

AU - Tolosa, E.

AU - Urbano-Márquez, A.

AU - Estivill, Xavier P.

AU - Nunes, V.

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