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 approximately 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.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Barrientos A,Casademont J,Saiz A,Cardellach F,Volpini V,Solans A,Tolosa E,Urbano-Marquez A,Estivill X,Nunes Vsubject
Has Abstractpub_date
1996-05-01 00:00:00pages
963-70issue
5eissn
0002-9297issn
1537-6605journal_volume
58pub_type
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
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doi:
更新日期:1992-05-01 00:00:00
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journal_title:American journal of human genetics
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更新日期:1995-03-01 00:00:00
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journal_title:American journal of human genetics
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doi:
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journal_title:American journal of human genetics
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更新日期:1998-04-01 00:00:00
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journal_title:American journal of human genetics
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doi:
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
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更新日期:1996-04-01 00:00:00
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journal_title:American journal of human genetics
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更新日期:1996-11-01 00:00:00