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Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients

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Journal of Inherited Metabolic Disease

Abstract

Summary: 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.

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Authors and Affiliations

  1. Department of Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Japan

    Y. Wakutani, H. Nakayasu, T. Takeshima & K. Nakashima

  2. Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Japan

    M. Adachi

  3. Department of Neonatology, Kanagawa Children's Medical Center, Japan

    M. Kawataki

  4. Department of Pediatrics, National Mie Chuo Hospital, Japan

    K. Kihira & H. Sawada

  5. Clinical Research Institute, National Mie Chuo Hospital, Japan

    M. Bonno

  6. Clinical Research Institute, National Mie Chuo Hospital, Japan

    H. Yamamoto

Authors
  1. Y. Wakutani
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  2. H. Nakayasu
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  3. T. Takeshima
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  4. M. Adachi
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  5. M. Kawataki
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  6. K. Kihira
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  7. H. Sawada
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  8. M. Bonno
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  9. H. Yamamoto
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  10. K. Nakashima
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Corresponding author

Correspondence to Y. Wakutani.

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Wakutani, Y., Nakayasu, H., Takeshima, T. et al. Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients. J Inherit Metab Dis 27, 787–788 (2004). https://doi.org/10.1023/B:BOLI.0000045842.59768.ea

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  • DOI: https://doi.org/10.1023/B:BOLI.0000045842.59768.ea

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