Novel pathogenic variant (c.2947C > T) of the carbamoyl phosphate synthetase 1 gene in neonatal-onset deficiency.

Ruimiao Bai,ALing He,Jinzhen Guo,Zhankui Li,Xiping Yu, JunAn Zeng,Yang Mi,Lin Wang, Jingjing Zhang,Dong Yang

Frontiers in neuroscience（2022）

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Abstract

In this study, two pathogenic missense variants were identified with NGS, expanding the variants pectrum of the gene. The variants and related structural knowledge of CPS enzyme demonstrate the applicability for the accurate diagnosis of CPS1D.

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Key words

carbamoyl phosphate synthetase 1 (CPS1),carbamoyl phosphate synthetase 1 deficiency (CPS1D),molecular diagnosis,next-generation sequencing (NGS),urea cycle disorder

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