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CPS1Carbamoyl Phosphate Synthetase 1
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1) Coverage, n (%) (a) Sample NAGS (5602 bp) CPS1 (123 692 bp) CPSA 5085/689 (90.
All OTC, NAGS, and CPS1 exons with flanking intronic and untranslated regions were screened for potential sequence variants, and parts of these screened regions were resequenced with Sanger technology (see Table 4 in the online Data Supplement).
Furthermore, we observed that OTC had a lower median sequencing depth than CPS1 in sample CPSA.
For fluorescence PCR analysis of the 9-bp deletion, we prepared two PCR primers (9Del-AS and 9Del-AS; Table 1), and three templates; two were the reverse transcription products of the total RNA isolated from the liver of a patient with CPS1 deficiency and a patient with ornithine transcarbamoylase deficiency (as a control); a plasmid containing the homozygous 9-bp deletion mutation was used.
The patient with CPS1 deficiency showed a heterozygous pattern with two peaks at 74.
5] Human genes: DMD, dystrophin (muscular dystrophy, Duchenne and Becker types); GLDC glycine dehydrogenase (decarboxylating); SLC25A13, solute carrier family 25, member 13 (citrin); ARC811, ATP-binding cassette, sub-family B (MDR/TAP), member 11; ATP881, ATPase, class I, type 8B, member 1; OTC, ornithine carbamoyltransferase; CPS1, carbamoyl-phosphate synthetase 1, mitochondrial; CY88, cytochrome b-245, beta polypeptide (chronic granulomatous disease); XK, X-linked Kx blood group (McLeod syndrome); RPGR, retinitis pigmentosa GTPase regulator; MECP2, methyl CpG binding protein 2 (Rett syndrome); A551, argininosuccinate synthetase 1; ASL, argininosuccinate lyase; ARC84, ATP-binding cassette, sub-family B (MDR/TAP), member 4.
We did not detect CPS1 deletions in the patient of case 4, who also presented with hyperammonemia; but instead we found a deletion of the OTC gene.