SLC22A5 gene mutation analysis and prenatal diagnosis for a family with primary carnitine deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 690-693, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-771938
ABSTRACT
OBJECTIVE@#To carry out mutation analysis and prenatal diagnosis for a family affected with primary carnitine deficiency.@*METHODS@#Genomic DNA of the proband was extracted from peripheral blood sample 10 days after birth. The 10 exons and intron/exon boundaries of the SLC22A5 gene were subjected to PCR amplification and Sanger sequencing. The proband's mother was pregnant again two years after his birth. Fetal DNA was extracted from amniocytes and subjected to PCR and Sanger sequencing.@*RESULTS@#Tandem mass spectrometric analysis of the proband revealed low level of plasma-free carnitine whilst organic acids in urine was normal. Compound heterozygous SLC22A5 mutations c.1195C>T (inherited from his father) and c.517delC (inherited from his mother) were detected in the proband. Prenatal diagnosis has detected no mutation in the fetus. The plasma-free carnitine was normal after birth.@*CONCLUSION@#Appropriate genetic testing and prenatal diagnosis can prevent further child with carnitine deficiency. The identification of c.517delC, a novel mutation, enriched the spectrum of SLC22A5 mutations.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
Análise Mutacional de DNA
/
Carnitina
/
Hiperamonemia
/
Membro 5 da Família 22 de Carreadores de Soluto
/
Genética
/
Doenças Musculares
/
Mutação
/
Cardiomiopatias
Tipo de estudo:
Estudo diagnóstico
Limite:
Criança, pré-escolar
/
Feminino
/
Humanos
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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