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

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 gene. The most prevalent missense variant in the 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 gene mutation in the Chinese population. Detection of single nucleotide polymorphism is possible for high-risk patients and parents in China.