Macular dystrophy, diabetes, and deafness associated with a large mitochondrial DNA deletion.
OBJECTIVE
To report the mitochondrial DNA in a 17-year-old patient with diabetes, deafness, cataract, and maculopathy. METHOD S: Ophthalmologic examination, fluorescein angiography, and electroretinogram were performed. Detection of deletion was analyzed by polymerase chain reaction and Southern blot, and screening for the A3243G mitochondrial DNA mutation was performed.


RESULTS
A short fragment of approximately 8.5 kb corresponding to deleted mitochondrial DNA was detected. The A3243G mitochondrial DNA mutation was not found.


CONCLUSIONS
A 7-kb heteroplasmic deletion of the mitochondrial genome was found in this patient. No mitochondrial DNA deletion has been reported previously in association with macular dystrophy.
Souied
E H
EH
Genetics Laboratory INSERM U-393, Hôpital des Enfants-Malades, Créteil, France.
Salès
M J
MJ
Soubrane
G
G
Coscas
G
G
Bigorie
B
B
Kaplan
J
J
Munnich
A
A
Rötig
A
A
D000293:Adolescent; D002386:Cataract / Q000235:genetics / Q000473:pathology; D004247:DNA / Q000032:analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D017353:Gene Deletion; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction
D004272:DNA, Mitochondrial; D004247:DNA