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. 2019 Dec 29;19:345. doi: 10.1186/s12883-019-1583-0

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© The Author(s). 2019

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Fig. 1 — First variant (a): ALDH4A1 gene (NM_003748.3) Intron 1: c.62 + 1G > A heterozygous. This variant affects a canonical nucleotide of the splice donor site of intron 1 and is therefore thought to lead to aberrant splicing. Second variant (b): ALDH4A1 gene (NM_003748.3) Exon 5 c.349G > C, p.(Asp117His) heterozygous. This missense variant affects a highly conserved residue in the dehydrogenase domain of the protein. Furthermore, three out of four in silico predictions applied (SIFT, MutationTaster, Polyphen-2) support the role of this sequence alteration as a pathogenic variant