Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients

Y. Wakutani, H. Nakayasu, T. Takeshima, M. Adachi, M. Kawataki, K. Kihira, H. Sawada, M. Bonno, H. Yamamoto, K. Nakashima

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)

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 from this mutant allele is absent or markedly low.

Original languageEnglish
Pages (from-to)787-788
Number of pages2
JournalJournal of Inherited Metabolic Disease
Volume27
Issue number6
DOIs
Publication statusPublished - 2004

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients'. Together they form a unique fingerprint.

Cite this