Analysis of metabolic profile and genetic variants for newborns with primary carnitine deficiency from Guangxi.
10.3760/cma.j.cn511374-20200805-00586
- Author:
Guoxing GENG
1
;
Qi YANG
;
Xin FAN
;
Caijuan LIN
;
Liulin WU
;
Shaoke CHEN
;
Jingsi LUO
Author Information
1. Laboratory of Genetic and Metabolic Center, the Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530023, China. luojingsi0815@126.com.
- Publication Type:Journal Article
- MeSH:
Cardiomyopathies;
Carnitine/deficiency*;
China;
Humans;
Hyperammonemia;
Infant, Newborn;
Metabolome;
Muscular Diseases;
Mutation;
Solute Carrier Family 22 Member 5/genetics*;
Tandem Mass Spectrometry
- From:
Chinese Journal of Medical Genetics
2021;38(11):1051-1054
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the metabolic profile and genetic variants for newborns with primary carnitine deficiency (PCD) from Guangxi, China.
METHODS:From January 2014 to December 2019, 400 575 newborns from the jurisdiction of Guangxi Zhuang Autonomous Region Newborn Screening Center were subjected to tandem mass spectrometry (MS/MS) analysis. Newborns with positive results for PCD and their mothers were recalled for retesting. Those who were still positive were subjected to sequencing of the SLC22A5 gene.
RESULTS:Twenty-two newborns and 9 mothers were diagnosed with PCD, which gave a prevalence rate of 1/18 208. Sequencing of 18 newborns and 4 mothers have identified 14 types of SLC22A5 gene variants, with the common ones including c.51C>G (10/44, 22.7%), c.1195C>T (9/44, 20.5%) and c.1400C>G (7/44, 15.9%), The c.517delC(p.L173Cfs*3) and c.1031C>T(p.T344I) were unreported previously and predicted to be pathogenic (PVS1+PM2_supporting+PM3+PP4) and likely pathogenic (PM1+PM2_supporting+PM3+PP3+PP4) based on the American College of Medical Genetics and Genomics standards and guidelines.
CONCLUSION:c.51C>G, c.1195C>T and c.1400C>G are the most common variants underlying PCD in Guangxi.
