[HTML][HTML] OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy
J Han, AJ Thompson-Lowrey, A Reiss, V Mayorov… - Genetics in …, 2006 - Elsevier
Purpose Autosomal dominant optic atrophy is a form of blindness, due in part to mutations
affecting the mitochondrial-targeted OPA1 gene product. Both OPA1-positive and OPA1-
negative families exhibit variable expressivity and incomplete penetrance. The purpose of
this study was therefore to determine if the background mtDNA genotype acts as a genetic
modifier for the expression of this disease. Methods To find novel pathogenic OPA1
mutations, we performed complete OPA1 gene exon sequencing in 30 patients. To assess …
affecting the mitochondrial-targeted OPA1 gene product. Both OPA1-positive and OPA1-
negative families exhibit variable expressivity and incomplete penetrance. The purpose of
this study was therefore to determine if the background mtDNA genotype acts as a genetic
modifier for the expression of this disease. Methods To find novel pathogenic OPA1
mutations, we performed complete OPA1 gene exon sequencing in 30 patients. To assess …