case_images: PMC3701919_01
case_images: Variants ofZFP57gene (first column), electropherogramresults of sequencing (middle column) and amino acid conservation(left column)
case_images: JCRPE-5-125-g1.jpg
case_images: PMC3701919_01_JCRPE-5-125-g1.jpg
case_images: f1
case_images: The patient had three novel homozygous coding variants, p.T139S (chr6:29,641,413A>T), p.S252F (chr6:29,641,073C>T), and p.A325P (chr6:29,640,855G>C) (Figure 1), and all three were found in heterozygous form in the parents. While p.T139S and p.S252F were not present in dbSNP137 (http://www.ncbi.nlm.nih.gov/SNP/) or the Exome Variant Server (http://evs.gs.washington.edu/EVS/), p.A325P was present in dbSNP137 as rs200537697 with a minor allele frequency of 0.15%. p.T139S and p.A325P were changes found within other placental mammals (Figure 1) and were located within relatively weakly conserved stretches of amino acids.