[PCR-based detection of heteroplasmic deleted mitochondrial DNA in Kearns-Sayre syndrome].
OBJECTIVE
To describe the clinical data and the results of molecular analyses of the mitochondrial DNA in a patient with Kearns-Sayre Syndrome.


METHODS
Molecular analyses of mitochondrial DNA from the patient included PCR amplification of a region where the common Kearns- Sayre deletion is located and Genotype-Phenotype correlations are discussed.


RESULTS
The affected patient showed ptosis, progressive external ophthalmoplegia, pigmentary changes in the peripheral retina and right bundle block. Molecular analysis disclosed a approximately 5 kb deletion in the mitochondrial DNA and some wild type mtDNA indicating heteroplasmy.


CONCLUSIONS
Molecular analysis of mitochondrial DNA confirmed the clinical diagnosis of Kearns-Sayre syndrome. PCR provides a rapid method to identify the common 4997 bp deletion in Kearns-Sayre syndrome. In such cases, PCR diagnosis could avoid invasive methods such as muscle biopsy or spinal tap.
Ramírez-Miranda
A
A
Instituto de Oftalmología Conde de Valenciana, México DF, Mexico. arturorammir@gmail.com
Navas-Pérez
A
A
Gurria-Quintana
L
L
Vargas-Ortega
J
J
Murillo-Correa
C
C
Zenteno
J C
JC
D000293:Adolescent; D001763:Blepharoptosis / Q000235:genetics; D004272:DNA, Mitochondrial; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000235:genetics*; D009886:Ophthalmoplegia / Q000235:genetics; D016133:Polymerase Chain Reaction
D004272:DNA, Mitochondrial