First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy - a case report.

Nicole WeisschuhPascale MazzolaTilman HeinrichTobias HaackBernd WissingerFelix TonagelCarina Kelbsch

Published in: BMC medical genetics (2020)

We report the first DOA case harboring an inversion in the OPA1 gene. Our study demonstrates that copy-neutral genomic rearrangements have to be considered as a possible cause of disease in DOA cases.

Keyphrases

copy number
genome wide
contrast enhanced
genome wide identification
optical coherence tomography
dna methylation
magnetic resonance imaging
computed tomography