Allele frequency based incidence estimates of lysosomal storage disorders in the ExAC non-finnish population.

<p>Starting with pathogenic (DM) variants in HGMD (orange), incidence was estimated using allele frequencies for each successive class of variant, combining mutations with all previous categories. Loss of function (LoF) variants (blue) were selected as those mutations causing either a splice affecting, stop-gained or frameshift change in the coding sequence which had not been documented in HGMD. Likewise, variants of unknown significance (VUS) were selected as those missense mutations in each gene that had yet to be documented in HGMD. Vertical dashed black lines represent the reported incidence rate of each disorder in the literature for the European region for Sanfilippo Type B [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0200008#pone.0200008.ref009" target="_blank">9</a>], MPS VI [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0200008#pone.0200008.ref010" target="_blank">10</a>], Krabbe [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0200008#pone.0200008.ref011" target="_blank">11</a>], Morquio A (average of the UK, Germany, and the Netherlands) [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0200008#pone.0200008.ref012" target="_blank">12</a>], MPS I [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0200008#pone.0200008.ref013" target="_blank">13</a>], MPS IIIA [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0200008#pone.0200008.ref009" target="_blank">9</a>], and CLN2 (average of Sweden, Norway, Finland, Italy, Portugal, Netherlands, the Czech Republic, and Italy) [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0200008#pone.0200008.ref002" target="_blank">2</a>].