Abstract
ABSTRACTS: Mitochondrial DNA deletions have been described in the Kearns-Sayre syndrome (KSS) and the Pearson's marrow-pancreas syndrome. In some cases, the same 4 977-bp deletion has been identified in these two very different diseases. Therefore, it is not currently possible to predict the clinical phenotype from the size or location of the deletion. Instead, differential tissue distribution of the deletion has been implicated as one possible determinant of phenotype. In particular, in KSS the deletions have not been detected by Southern blotting in the blood, whereas in Pearson's syndrome they are easily detectable. We describe here an 11-y-old boy with clinically characteristic KSS and a 7.4-kb mitochondrial DNA deletion between aucleotides 7 194 and 14 595. Southern blotting reveals that 75% of the mitochondrial DNA molecules from his peripheral blood have this deletion. This case blurs further the molecular distinction between the KSS and Pearson's marrow-pancreas syndrome, questioning whether tissue distribution is a sufficient explanation for the very different pheaotypes of these disorders.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Fischel-Ghodsian, N., Bohlman, M., Prezant, T. et al. Deletion in Blood Mitochondrial DNA in Kearns-Sayre Syndrome. Pediatr Res 31, 557–560 (1992). https://doi.org/10.1203/00006450-199206000-00004
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1203/00006450-199206000-00004
This article is cited by
-
RETRACTED ARTICLE: Kearns Sayre Syndrome—Case Report with Review of Literature
The Indian Journal of Pediatrics (2012)
-
Hematopoiesis in the thymidine kinase 2 deficient mouse model of mitochondrial DNA depletion syndrome
Journal of Inherited Metabolic Disease (2010)
-
Controversies in counseling for mitochondrial conditions
Journal of Genetic Counseling (1996)