POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.
The authors identified two novel heterozygous missense transitions in the gene for the mitochondrial polymerase gammaA subunit (POLG) in a family with an autosomal recessive syndrome comprising progressive external ophthalmoplegia (PEO), polyneuropathy, ataxia, sensorineural hearing loss, and affective disorders. These mutations were not detected in 120 healthy control subjects.
Mancuso
M
M
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.
Filosto
M
M
Bellan
M
M
Liguori
R
R
Montagna
P
P
Baruzzi
A
A
DiMauro
S
S
Carelli
V
V
D000328:Adult; D019943:Amino Acid Substitution; D001259:Ataxia / Q000235:genetics*; D003072:Cognition Disorders / Q000235:genetics; D004252:DNA Mutational Analysis; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D019964:Mood Disorders / Q000235:genetics; D020125:Mutation, Missense; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D013577:Syndrome
D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human