title: Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis.
abstract: We report a Japanese boy who died at Day 28 of life because of severe carbamoyl phosphate synthetase I (CPS1) deficiency that was proven by enzyme assay. By analysis of cDNA and genomic DNA, he was shown to be a compound heterozygote with two point mutations of the CPS1 gene, 840G>C leading to an aberrant splicing and 1123C>T (predicting Q375X). The 840G>C was a mutation described in another Japanese family. Since his parents carried each mutation heterozygously, we performed prenatal diagnosis at 16 weeks of his mother's next gestation by multiplex PCR and melting curve analysis in a single capillary containing two-color fluorescent (LC-Red 640 and LC-Red 705) probes on LightCycler. We analyzed genomic DNA extracted from amniotic cells and found that the fetus was homozygous for the wild-type alleles. At term a healthy girl was born without hyperammonemia.
authors.affiliation: Department of Pediatrics, Nagoya University School of Medicine, Nagoya, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Aoshima
authors.forename: M
authors.initials: M
authors.lastname: Kajita
authors.forename: Y
authors.initials: Y
authors.lastname: Sekido
authors.forename: S
authors.initials: S
authors.lastname: Mimura
authors.forename: A
authors.initials: A
authors.lastname: Itakura
authors.forename: I
authors.initials: I
authors.lastname: Yasuda
authors.forename: T
authors.initials: T
authors.lastname: Saheki
authors.forename: K
authors.initials: K
authors.lastname: Watanabe
authors.forename: K
authors.initials: K
authors.lastname: Shimokata
authors.forename: T
authors.initials: T
authors.lastname: Niwa
mesh_terms: D020165:Carbamoyl-Phosphate Synthase I Deficiency Disease / Q000175:diagnosis* / Q000235:genetics; D017931:DNA Primers; D003937:Diagnosis, Differential; D005260:Female; D005964:Glucosyltransferases; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D029702:Schizosaccharomyces pombe Proteins
chemical_list: D017931:DNA Primers; D008565:Membrane Proteins; D029702:Schizosaccharomyces pombe Proteins; D005964:Glucosyltransferases; C020570:1,3-beta-glucan synthase