Abstract:
:The Pearson marrow-pancreas syndrome (MIM 557000) is a disorder involving the hematopoietic system and the exocrine pancreas in early infancy. We have previously shown that this disease results from a defect of oxidative phosphorylation associated with deletions of the mitochondrial DNA. We present here a series of 21 cases (including 15 unreported patients) with Pearson syndrome and describe mitochondrial DNA deletions as consistent features in this syndrome. Nine patients presented the same 4.9 kb deletion, while other patients presented different deletions ranging in size from 9 to 14 kb between tRNACyst and the D-loop. Direct repeats (4-13 bp) were consistently present in the wild-type mtDNA at the boundaries of the deletions. Deletion-dimers, deletion-multimers or duplications were observed in association with deletions. Duplications were identified both in patients who died of their Pearson syndrome and in the ones who survived and developed Kearns-Sayre syndrome, suggesting that no correlation could be made between the clinical severity and the type, size or location of the rearrangements.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Rötig A,Bourgeron T,Chretien D,Rustin P,Munnich Adoi
10.1093/hmg/4.8.1327subject
Has Abstractpub_date
1995-08-01 00:00:00pages
1327-30issue
8eissn
0964-6906issn
1460-2083journal_volume
4pub_type
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