[Genetic and prenatal diagnosis for a Chinese family with primary carnitine deficiency]
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Published on: June 25, 2010
Yanhua Su1, Yang Liu, Jiansheng Xie
1Grade 2012 Master Program for Obstetrics and Gynecology, Guangdong Medical University, Guangzhou, Guangdong 518028, P.R. China. jianshengxie2000@aliyun.com.
Insights
A novel mutation in the SLC22A5 gene was identified in a boy with primary carnitine deficiency. This finding aids in genetic counseling and prenatal diagnosis for his family.
Area of Science:
- Genetics
- Molecular Biology
- Biochemistry
Background:
- Primary carnitine deficiency is a rare metabolic disorder.
- Genetic mutations in the SLC22A5 gene are a known cause of this condition.
Purpose of the Study:
- To identify the genetic mutation responsible for primary carnitine deficiency in a 5-month-old boy.
- To offer genetic counseling and prenatal diagnostic services to the affected family.
Main Methods:
- DNA analysis of the SLC22A5 gene (10 exons) using PCR and Sanger sequencing.
- Genetic testing of the proband, parents, sister, and amniotic fluid sample.
- Karyotyping and MLPA analysis of amniotic fluid.
Main Results:
- A homozygous nonsense mutation (c.760C>T, p.R254X) in the SLC22A5 gene was found in the proband.
- Heterozygous carriers, including the fetus, were identified.
- Amniotic fluid analysis confirmed normal karyotype and no chromosomal microdeletions.
Conclusions:
- The identified homozygous SLC22A5 mutation likely causes the proband's primary carnitine deficiency.
- Genetic counseling and prenatal diagnosis were successfully provided to the family.
Objective:
To identify potential mutation of SLC22A5 gene in a 5-month-old boy affected with primary carnitine deficiency and provide genetic counseling and prenatal diagnosis for the members of his family.
Methods:
DNA was extracted from peripheral blood samples derived from the proband, his parents and elder sister, as well as amniotic fluid from his pregnant mother. All of the 10 exons of the SLC22A5 gene were amplified by PCR and subjected to Sanger sequencing. The amniotic fluid sample was also subjected to G-banded karyotyping and multiplex ligation-dependent probe amplification (MLPA).
Results:
A homozygous mutation c.760C>T (p.R254X) of the SLC22A5 gene was detected in the proband. Heterozygous mutation c.760C>T (p.R254X) was also found in other family members including the fetus. The karyotyping and chromosomal microdeletion testing for the amniotic fluid sample were both normal.
Conclusion:
The newly identified homozygous nonsense c.760C>T (p.R254X) mutation of the SLC22A5 gene probably underlies the primary carnitine deficiency of the proband. Genetic counseling and prenatal diagnosis have been provided for this family.
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