Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations
Gene: CPS1
MONDO:0009376
carbamoyl phosphate synthetase I deficiency disease
Inheritance: Autosomal recessive
PMID 21120950
Pt3
CasePt3 male, 4yo death, Italian
CasePresentingHPOs HP:0001987 (Hyperammonemia)
HPOsFreeText Severe hyperammonemia at 48h of life
CaseNotHPOs n/a
CasePreviousTesting Metabolic testing: ammonia(348[normal< 75 μg/dl])
CaseMethod1 PCR
CaseMethod2 n/a
CaseGenotypingMethod PCR using primers 80 nucleotides from the splice sites flanking the 38 exons of CPS1. Tested both patients and parents. (found in 12955727, Funghini et al. (2003))
Variant 1. NM_001875.4:c.1022T>C(p.Leu341Ser), 2. NM_001875.4:c.3784C>T(p.Arg1262Ter ) compound heterozygous
ClinVar n/a
CAID 1. CA350430554, 2. CA350438463
gnomAD 1. n/a, 2. 0.00004485(European (Finnish)), 0.000004062(Total)
VariantEvidence n/a
CaseAddInfo similarly affected brother died without diagnosis
CasePMIDs n/a
Pt3
CasePt3 male, 4yo death, Italian
CasePresentingHPOs HP:0001987 (Hyperammonemia)
HPOsFreeText Severe hyperammonemia at 48h of life
CaseNotHPOs n/a
CasePreviousTesting Metabolic testing: ammonia(348[normal< 75 μg/dl])
CaseMethod1 PCR
CaseMethod2 n/a
CaseGenotypingMethod PCR using primers 80 nucleotides from the splice sites flanking the 38 exons of CPS1. Tested both patients and parents. (found in 12955727, Funghini et al. (2003))
Variant 1. NM_001875.4:c.1022T>C(p.Leu341Ser), 2. NM_001875.4:c.3784C>T(p.Arg1262Ter ) compound heterozygous
ClinVar n/a
CAID 1. CA350430554, 2. CA350438463
gnomAD 1. n/a, 2. 0.00004485(European (Finnish)), 0.000004062(Total)
VariantEvidence n/a
CaseAddInfo similarly affected brother died without diagnosis
CasePMIDs n/a