Dataset Information

One potential hotspot SLC25A20 gene variants in Chinese patients with carnitine-acylcarnitine translocase deficiency.

ABSTRACT:

Background

Carnitine-acylcarnitine translocase deficiency (CACT deficiency) is a rare and life-threatening autosomal recessive disorder of mitochondrial fatty acid oxidation caused by variant of SLC25A20 gene. The most prevalent missense variant in the SLC25A20 gene in Asia was c.199-10T > G. Due to the c.199-10T > G variant, CACT deficiency is a severe phenotype.

Materials and methods

Herein, we present a neonatal case with c.199-10T > G variant in China and analyze the clinical, biochemical, and genetic aspects of 78 patients previously identified with CACT deficiency.

Results

The patient presented with a series of severe metabolic crises that rapidly deteriorated and eventually died 3 days after delivery. The sequencing of the patient's genome indicated that he was homozygous for the c.199-10T > G variant. 30 patients were found to have the c.199-10T > G mutation, of which 23 were Chinese and 22 were afflicted by the c.199-10T > G splicing variation. In China, c.199-10T > G allele frequency was 82.6%.

Conclusion

In CACT deficiency, prompt recognition and treatment are critical. Our data suggested that c.199-10T > G may be a potential hotspot SLC25A20 gene mutation in the Chinese population. Detection of single nucleotide polymorphism is possible for high-risk patients and parents in China.

SUBMITTER: Li X

PROVIDER: S-EPMC9676358 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

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Publications

One potential hotspot <i>SLC25A20</i> gene variants in Chinese patients with carnitine-acylcarnitine translocase deficiency.

Li Xiaoli X Shen Jian J

Frontiers in pediatrics 20221107

<h4>Background</h4>Carnitine-acylcarnitine translocase deficiency (CACT deficiency) is a rare and life-threatening autosomal recessive disorder of mitochondrial fatty acid oxidation caused by variant of <i>SLC25A20</i> gene. The most prevalent missense variant in the <i>SLC25A20</i> gene in Asia was c.199-10T > G. Due to the c.199-10T > G variant, CACT deficiency is a severe phenotype.<h4>Materials and methods</h4>Herein, we present a neonatal case with c.199-10T > G variant in China and analyze ...[more]

PMID: 36419912

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