The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome

Abstract

We report clinical and biochemical finding from three unrelated patients presenting ONCE (Optic Neuropathy, Cardiomyopathy and Encephalopathy with lactic acidosis and combined OXPHOS deficiency) syndrome. Whole-exome sequencing (WES) of the three patients and the healthy sister of one of them were used to identify the carry gene. Clinical and biochemical findings were used to filter variants, and molecular, in silico and genetic studies were performed to characterize the candidate variants. Mitochondrial DNA (mtDNA) defects involving mutations, deletions or depletion were discarded, whereas WES uncovered a double homozygous mutation in the MTO1 gene (NM_001123226:c.1510C>T, p.R504C, and c.1669G>A, p.V557M) in two of the patients and the homozygous mutation p.R504C in the other. Therefore, our data confirm p.R504C as pathogenic mutation responsible of ONCE syndrome, and p.V557M as a rare polymorphic variant.

The R504C mutation in MTO1 gene is the responsible of ONCE syndrome (Optic Neuropathy, Cardiomyopathy and Encephalopathy with lactic acidosis and combined OXPHOS deficiency) and V557M is a rare polymorphic variant

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