Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome.
We describe a family in which the mother has progressive external ophthalmoplegia with the common 4977 base pair deletion, and her son has a syndrome similar to the Pearson marrow-pancreas syndrome with the identical deletion. This case extends the clinical phenotype of the Pearson syndrome and raises the possibility that developmentally regulated tissue-specific nuclear factors are responsible for the differential phenotypic expression of these two mitochondrial disorders.
Bernes
S M
SM
Department of Pediatric Neurology, Phoenix Children's Hospital, Arizona.
Bacino
C
C
Prezant
T R
TR
Pearson
M A
MA
Wood
T S
TS
Fournier
P
P
Fischel-Ghodsian
N
N
D000328:Adult; D000756:Anemia, Sideroblastic / Q000235:genetics*; D001482:Base Composition / Q000235:genetics; D015139:Blotting, Southern; D004272:DNA, Mitochondrial / Q000235:genetics*; D010188:Exocrine Pancreatic Insufficiency / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion / Q000235:genetics*; D013577:Syndrome
D004272:DNA, Mitochondrial