Detection of CPS1 gene mutation in a neonate with carbamoyl phosphate synthetase I deficiency.
10.3760/cma.j.issn.1003-9406.2018.06.017
- Author:
Haiyan ZHANG
1
;
Yujie LANG
;
Kaihui ZHANG
;
Xiaoying LI
;
Yi LIU
;
Zhongtao GAI
Author Information
1. Institute of Pediatric Research, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. gaizhongtao@sina.com.
- Publication Type:Journal Article
- MeSH:
Carbamoyl-Phosphate Synthase (Ammonia);
genetics;
Carbamoyl-Phosphate Synthase I Deficiency Disease;
genetics;
Female;
High-Throughput Nucleotide Sequencing;
Humans;
Hyperammonemia;
diagnosis;
genetics;
Infant, Newborn;
Mutation
- From:
Chinese Journal of Medical Genetics
2018;35(6):848-851
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a neonate featuring hyperammonemia.
METHODS:The patient was examined and tested by tandem mass spectrometry and next generation sequencing (NGS). Suspected mutations were confirmed by Sanger sequencing of the proband and her parents. Potential impact of the mutation was predicted with SIFT, PolyPhen-2 and MutationTaste software.
RESULTS:Plasma ammonia and alanine were significantly increased in the proband, while serum citrulline was decreased. The neonate was found to harbor compound heterozygous mutations of the CPS1 gene [c.1631C>T(p.T544M) and c.1981G>T(p.G661C)], which were respectively inherited from her father and mother.
CONCLUSION:The carbamoyl phosphate synthetase I deficiency of the proband can probably be attributed to the mutations of the CPS1 gene. Above finding has expanded the spectrum of CPS1 mutations in association with carbamoyl phosphate synthetase I deficiency.
