Figure 3.
Genetic location of the PUF60 variants identified to date. (a) Schematic human chromosome 8. The vertical red line indicates the position of the PUF60 gene at 8q24.3. (b) Variants identified in PUF60 by WES in the five patients of the present study and in the patient reported by dauber et al8, and conserved amino acid sequences among mammals. (c) A focus on the PUF60 locus with a schematic representation of exons (vertical black bars). (d) Distribution of amino-acid changes in PUF60. RRM, RNA recognition motif. A full color version of this figure is available at the European Journal of Human Genetics journal online.