Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients.
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.
Wakutani
Y
Y
Department of Neurology, Institute of Neurological Sciences, Tottori University, Yonago 683-8504, Japan. ywaku@grape.med.tottori-u.ac.jp
Nakayasu
H
H
Takeshima
T
T
Adachi
M
M
Kawataki
M
M
Kihira
K
K
Sawada
H
H
Bonno
M
M
Yamamoto
H
H
Nakashima
K
K
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
D018076:DNA, Complementary; D012333:RNA, Messenger; D002222:Carbamoyl-Phosphate Synthase (Ammonia)