title: Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients.
abstract: We describe the results of mutational analysis of the carbamoylphosphate synthetase I (CPSI) gene in three nonconsanguineous patients with CPSI deficiency. Compound heterozygotes of 3422T/G (V1141G) plus 3784C/T (R1262X), 1528delG (510-514 ARQLX) plus 2752T/C (S918P), and 2549G/A (R850H) plus 2797delT (L933X) were identified through genomic analysis; however, the 2797delT (L933X) mutation was not detected in cDNA analysis using biopsied liver, suggesting that mRNA expression rom this mutant allele is absent or markedly low.
authors.affiliation: Department of Neurology, Institute of Neurological Sciences, Tottori University, Yonago 683-8504, Japan. ywaku@grape.med.tottori-u.ac.jp
authors.forename: Y
authors.initials: Y
authors.lastname: Wakutani
authors.forename: H
authors.initials: H
authors.lastname: Nakayasu
authors.forename: T
authors.initials: T
authors.lastname: Takeshima
authors.forename: M
authors.initials: M
authors.lastname: Adachi
authors.forename: M
authors.initials: M
authors.lastname: Kawataki
authors.forename: K
authors.initials: K
authors.lastname: Kihira
authors.forename: H
authors.initials: H
authors.lastname: Sawada
authors.forename: M
authors.initials: M
authors.lastname: Bonno
authors.forename: H
authors.initials: H
authors.lastname: Yamamoto
authors.forename: K
authors.initials: K
authors.lastname: Nakashima
mesh_terms: D000293:Adolescent; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000235:genetics*; D020165:Carbamoyl-Phosphate Synthase I Deficiency Disease / Q000235:genetics*; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007564:Japan; D008099:Liver / Q000378:metabolism / Q000473:pathology; D008297:Male; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D018076:DNA, Complementary; D012333:RNA, Messenger; D002222:Carbamoyl-Phosphate Synthase (Ammonia)