PMC10200132_01
PMC10200132_02
Sanger sequencing of the girl and the parents. Up panel: the girl with CCNO gene (NM-021147.5) at c.323del. Middle and down panel: the father and the mother with heterozygous mutation in CCNO gene.
PGPM-16-443-g0001.jpg
PMC10200132_02_PGPM-16-443-g0001.jpg
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Genetic testing results, as shown in Figure 1: High throughput sequencing and gene analysis of the whole exome of the child's peripheral blood showed mutation of CCNO:NM_021147.5:exon1:c.323del:p.F108Sfs*21, which came from the parents who were both heterozygotes. 