#1 Genetic Cause


3-MGA-3 is an autosomal recessive disease casued by a splice site that is introduced by the OPA3 gene, which affects chromosome 19q13.2-q13.3. This mutation causes a homozygous GC change at the -1 position of intron 1 in the 3’ (acceptor) splice site, which suppresses OPA3 mRNA expression.