Identification of a novel mutation of UPB1 gene in a Chinese family affected with beta-ureidopropinoase deficiency.
10.3760/cma.j.issn.1003-9406.2018.06.011
- Author:
Jianbo SHU
1
;
Bei SUN
;
Chao WANG
;
Rui PAN
;
Yingtao MENG
;
Chunhua ZHANG
;
Chunquan CAI
;
Shuxiang LIN
;
Yuqin ZHANG
Author Information
1. Tianjin Pediatric Research Institute, Tianjin Children's Hospital, Tianjin 300134, China. zhangyuqin0809@sina.com.
- Publication Type:Journal Article
- MeSH:
Abnormalities, Multiple;
genetics;
Amidohydrolases;
deficiency;
genetics;
Asian Continental Ancestry Group;
Brain Diseases;
genetics;
China;
Exons;
Humans;
Infant;
Introns;
Movement Disorders;
genetics;
Mutation;
Pedigree;
Purine-Pyrimidine Metabolism, Inborn Errors;
genetics
- From:
Chinese Journal of Medical Genetics
2018;35(6):824-827
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the molecular etiology for a Chinese family affected with beta-ureidopropinoase deficiency.
METHODS:Genomic DNA was extracted from the peripheral blood samples of family members. All exons and flanking intron regions of the UPB1 gene were amplified by PCR and detected by direct sequencing. The pathogenicity of identified mutation was analyzed using Polyphen2 and SIFT software.
RESULTS:Compound heterozygous mutations of the UPB1 gene, including c.853G>A (p.A285T) and c.917-1G>A, were discovered in the proband, which were inherited respectively from his mother and father. Bioinformatics analysis suggested that this novel mutation was damaging.
CONCLUSION:The compound heterozygous mutations of the UPB1 gene probably underlie the beta-ureidopropinoase deficiency in the infant. Discovery of c.853G>A also enriched the mutation spectrum of the UPB1 gene.
