Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: an example of phenotypic mimicry?

TitleMitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: an example of phenotypic mimicry?
Publication TypeJournal Article
Year of Publication1991
AuthorsMoraes, CT, Zeviani, M, Schon, EA, Hickman, RO, Vlcek, BW, DiMauro, S
JournalAm J Med Genet
Volume41
Issue3
Pagination301-5
Date Published1991 Dec 01
ISSN0148-7299
KeywordsBase Sequence, Blotting, Southern, Child, Chromosome Deletion, DNA, Mitochondrial, Female, Genetic Linkage, Humans, Kearns-Sayre Syndrome, Oculocerebrorenal Syndrome, Phenotype, Polymerase Chain Reaction, X Chromosome
Abstract

Lowe oculocerebrorenal syndrome is an X-linked recessive disease whose locus has been assigned to Xp25. However, several reports of affected females without obvious chromosomal abnormalities suggest genetic heterogeneity of the Lowe phenotype. Although the biochemical defect in typical Lowe syndrome is not known, there is evidence suggesting that mitochondrial metabolism may be impaired. We have studied a girl who presented with an oculocerebrorenal syndrome, but later developed symptoms and signs of mitochondrial encephalomyopathy. Molecular genetic analysis of muscle mitochondrial DNA showed the presence of a population of partially deleted mtDNAs (heteroplasmy). The deletion was 7803 bp long and encompassed several genes encoding subunits of the respiratory chain enzymes. Our results suggest that mitochondrial DNA deletions may mimic several symptoms of the Lowe phenotype and reinforce the concept that a defect of mitochondrial metabolism could be involved in the pathogenesis of the X-linked disease.

DOI10.1002/ajmg.1320410308
Alternate JournalAm. J. Med. Genet.
Citation Key10.1002/ajmg.1320410308
PubMed ID1789283
Grant ListNS 11766 / NS / NINDS NIH HHS / United States