SLC22A5 gene mutation analysis and prenatal diagnosis for a family with primary carnitine deficiency.
10.3760/cma.j.issn.1003-9406.2019.07.008
- VernacularTitle:一个原发性肉碱缺乏症家系的基因突变分析及产前诊断
- Author:
Jianqiang TAN
1
;
Dayu CHEN
;
Zhetao LI
;
Dejian YUAN
;
Bailing LIU
;
Tizhen YAN
;
Jun HUANG
;
Ren CAI
Author Information
1. Department of Medical Genetics, Liuzhou Maternal and Child Health Care Hospital, Liuzhou, Guangxi 545001, China. lzcairen@126.com.
- Publication Type:Journal Article
- MeSH:
Cardiomyopathies;
genetics;
Carnitine;
deficiency;
genetics;
Child, Preschool;
DNA Mutational Analysis;
Female;
Humans;
Hyperammonemia;
genetics;
Muscular Diseases;
genetics;
Mutation;
Pregnancy;
Prenatal Diagnosis;
Solute Carrier Family 22 Member 5;
genetics
- From:
Chinese Journal of Medical Genetics
2019;36(7):690-693
- CountryChina
- Language:Chinese
-
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.
