Fig. 1: Summary of findings in TRIT1.

a TRIT1 protein with domains according to Uniprot, and previously reported disease-causing variants, with exons indicated below the linear graph. The vertical axis depicts the number of patients found in literature, including the variants found in this study. Our novel variant p.P24S resides on the mitochondrial transit peptide, where one previous variant has been described. References for the gene review can be found in supplementary information. b Protein conservation through species of amino acid residue Pro24 (yellow shade) and bordering regions. c Family pedigree, both parents were unaffected carriers of different variants, the affected proband’s genotype compound heterozygote. d Sanger sequencing results of family, the first row depicting the maternally inherited c.70 C > T variant, the second row the paternally inherited c.979 C > T. e Of the previously reported 16 pathogenic variants, 11 are found in gnomAD as rare variants. The bar graph depicts the allele frequency of those five variants with total allele frequency greater than 0.005%, in different genetic subpopulations (bars), in order of total frequency (dotted line).