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Discovering genetic causes of optic atrophy syndromes through whole exome sequencing

The genetic defects leading to optic atrophy range from mitochondrial DNA (mtDNA) point mutations in Leber’s hereditary optic neuropathy (LHON), to dominant and recessive mutations affecting a cluster of nuclear genes implicated in mitochondrial dynamics. We performed WES in patients with an optic atrophy spectrum disorder, including retinal macular dystrophy and kidney insufficiency leading to transplantation, associated with mitochondrial DNA (mtDNA) depletion without accumulation of multiple deletions, to identify the genetic causes of this syndrome.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001005321 Illumina HiSeq 2500 3
EGAD00001005344 Illumina HiSeq 2000 1
Publications Citations
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
J Clin Invest 130: 2020 108-125