Analysis of metabolic profile and genetic variants for newborns with primary carnitine deficiency from Guangxi / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1051-1054, 2021.
Artigo
em Chinês
| WPRIM
| ID: wpr-921995
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Carnitina
/
China
/
Hiperamonemia
/
Espectrometria de Massas em Tandem
/
Metaboloma
/
Membro 5 da Família 22 de Carreadores de Soluto
/
Doenças Musculares
/
Mutação
/
Cardiomiopatias
Tipo de estudo:
Guia de Prática Clínica
Limite:
Humanos
/
Recém-Nascido
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2021
Tipo de documento:
Artigo
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