Answer to Gerber et al. "Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy"

Abstract

Gal et al address the issues raised by Gerber et al and reiterate that patients in their study showed decreased Misato homolog 1 (MSTO1) mRNA and protein levels, but also confirm finding of Gerber et al that the mutation is in MSTO2p pseudogene. Whether MSTO2p variant contributes to the observed decrease in MSTO1 levels in patients remains unclear.

Figure 1. Sequencing results of exon 1 of MSTO1 and MSTO2P using Sanger methodology

(A) The results of the repeated Sanger sequencing with the original primers (Gal et al, 2017). As a result of the sequencing, a heterozygous c.22G>A (MSTO1) and a heterozygous n.83G>A (MSTO2P) variant was present in the investigated region. Due to a high homology the MSTO1 and MSTO2P genes could not be separated. (B) MSTO1 sequencing with the newly designed section‐specific primers. As a result of the new sequencing, in the 22^nd nucleotide position of the coding section of the. MSTO1 gene the guanine is present on both alleles. (C) MSTO2P sequencing with the newly designed section‐specific primers. In the MSTO2P gene the n.83G>A variant is present in homozygous form.