PMC4869965_01
MitoMet  array CGH results. A. A homozygous deletion encompassing exons 9-10 of the CPS1 gene was detected. PCR across the deletion junction and sequencing confirmed a 1440 bp deletion from c.841-194 to c.1086+77, which is predicted to be an in-frame deletion (p.I281_E362del). B. A heterozygous deletion encompassing exons 9-11 of the CPS1 gene was detected. A 2395 bp deletion was confirmed by PCR and sequencing, which is predicted to be an in-frame deletion (p.I281_E388del). C. A heterozygous deletion of exon 24 of CPS1 gene was detected by MitoMet  array CGH and confirmed by PCR and sequencing. The 5' end of the deletion junction included a poly-A tract, the size of the deletion is 2559 bp. The deletion of exon 24 is predicted to be a frameshift deletion (p.E966AfsX27). D. A large heterozygous deletion encompassing intron 2 to 3' UTR was detected by MitoMet  array CGH. The size of deletion ranges from 134 kb to 767 kb based on backbone probe positions. The deletion does not include any known genes at the 3' end of CPS1 gene.
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F1
The size of deletion was estimated to range from 134 kb to 767 kb based on the backbone probe positions including the extended CPS1 3'-UTR region (Fig. 1D).