Literature DB >> 15617192

Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients.

Y Wakutani1, H Nakayasu, T Takeshima, M Adachi, M Kawataki, K Kihira, H Sawada, M Bonno, H Yamamoto, K Nakashima.   

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.

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Year:  2004        PMID： 15617192     DOI： 10.1023/b:boli.0000045842.59768.ea

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  5 in total

1.  Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients.

Authors:  Ernie Zuraida Ali; Mohd Khairul Nizam Mohd Khalid; Zabedah Md Yunus; Yusnita Yakob; Chen Bee Chin; Kartikasalwah Abd Latif; Ngu Lock Hock
Journal:  Eur J Pediatr       Date:  2015-10-06       Impact factor: 3.183

2.  Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing.

Authors:  Guoqing Zhang; Yulin Chen; Huiqun Ju; Fei Bei; Jing Li; Jian Wang; Jianhua Sun; Jun Bu
Journal:  J Clin Lab Anal       Date:  2017-04-26       Impact factor: 2.352

3.  Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing.

Authors:  Rihwa Choi; Hyung Doo Park; Mina Yang; Chang Seok Ki; Soo Youn Lee; Jong Won Kim; Junghan Song; Yun Sil Chang; Won Soon Park
Journal:  Ann Lab Med       Date:  2017-01       Impact factor: 3.464

4.  Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.

Authors:  Keiji Kurokawa; Tohru Yorifuji; Masahiko Kawai; Toru Momoi; Hironori Nagasaka; Masaki Takayanagi; Keiko Kobayashi; Makoto Yoshino; Tomoki Kosho; Masanori Adachi; Harumi Otsuka; Shigenori Yamamoto; Toshiaki Murata; Akihito Suenaga; Tsutomu Ishii; Kihei Terada; Naoto Shimura; Kohji Kiwaki; Haruo Shintaku; Masaru Yamakawa; Hiroki Nakabayashi; Yosuke Wakutani; Tatsutoshi Nakahata
Journal:  J Hum Genet       Date:  2007-02-20       Impact factor: 3.172

5.  A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation.

Authors:  Ruoyi Ishikawa; Takamichi Sugimoto; Takafumi Abe; Narumi Ohno; Taku Tazuma; Mayumi Giga; Hiroyuki Naito; Tomoyuki Kono; Eiichi Nomura; Keiichi Hara; Tohru Yorifuji; Takemori Yamawaki
Journal:  Intern Med       Date:  2021-10-19       Impact factor: 1.282
  5 in total

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