Distribution of both reported and non-reported loss of function, and missense variants in all 13 studied NBIA genes. (a) depicts a correlation between the number of reported variants and a year of gene identification and association with an NBIA disorder. (b) shows a correlation between the number of variants that was adjusted with a factor for the gene size (number of amino acids of a gene x/average number of amino acids of all 13 NBIA genes) and the time period since the identification and association with an NBIA disorder (i.e. 2021 - the year of publication). Due to the multivariate testing, p-value of less than 0.01 was considered statistically significant (Spearman correlation coefficient, Bonferroni correction for 5 hypotheses). For each gene, a year of description and/or the size of the gene in kb is shown below (A, B).19,22,34, 35, 36, 37, 38, 39, 40, 41, 42, 43 Data are expressed as whole numbers.
LoF, Loss of Function; NBIA, Neurodegeneration with Brain Iron accumulation; n, number.