Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency

Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency—Lessons learned

Published:2022-12 Issue: Volume:33 Page:100942
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Lin Hsin-Ti,Enchautegui-Colon Yazmin,Huang Yu-Ren,Zimmerman Chelsea,DeMarzo Danielle,Tsai Anne Chun-Hui

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

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3. Recommended Uniform Screening Panel, Official Web Site of the U.S. Health Resources & Services Administration.

4. Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort;Funghini;Gene,2012

5. Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate;Ah Mew;J. Pediatr.,2014

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical features and CPS1 variants in Chinese patients with carbamoyl phosphate synthetase 1 deficiency;BMC Pediatrics;2024-08-22

2. Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency;Journal of Pediatric Endocrinology and Metabolism;2023-07-10

3. Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature review;BMC Medical Genomics;2023-06-26