Study

Discovering genetic causes of optic atrophy syndromes through whole exome sequencing

Study ID Alternative Stable ID Type
EGAS00001003850 Other

Study Description

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.

Study Datasets 2 datasets.

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Dataset ID Description Technology Samples
EGAD00001005321
The dataset includes Fastq files from WES experiments performed on a proband presenting with syndromic optic atrophy and his healthy parents. Exons were captured by hybridization and sequenced on an Illumina platform
Illumina HiSeq 2500 3
EGAD00001005344
The dataset includes the BAM files from WES experiments performed on a proband presenting with syndromic optic atrophy and his healthy parents - Family 2 in our study
Illumina HiSeq 2000 1

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